Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The process by which a DNA molecule is duplicated.
Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed)
The genetic complement of MITOCHONDRIA as represented in their DNA.
Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)
DNA-dependent DNA polymerases found in bacteria, animal and plant cells. During the replication process, these enzymes catalyze the addition of deoxyribonucleotide residues to the end of a DNA strand in the presence of DNA as template-primer. They also possess exonuclease activity and therefore function in DNA repair.
A contagious disease caused by canine adenovirus (ADENOVIRUSES, CANINE) infecting the LIVER, the EYE, the KIDNEY, and other organs in dogs, other canids, and bears. Symptoms include FEVER; EDEMA; VOMITING; and DIARRHEA.
Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
A plant genus of the family GERANIACEAE. The common name of geranium is also used for the GERANIUM genus.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Component of the NATIONAL INSTITUTES OF HEALTH. It seeks to improve oral, dental and craniofacial health through research, research training, and the dissemination of health information by conducting and supporting basic and clinical research. It was established in 1948 as the National Institute of Dental Research and re-named in 1998 as the National Institute of Dental and Craniofacial Research.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Any observable response or action of an adolescent.
A multisubunit enzyme complex containing CYTOCHROME A GROUP; CYTOCHROME A3; two copper atoms; and 13 different protein subunits. It is the terminal oxidase complex of the RESPIRATORY CHAIN and collects electrons that are transferred from the reduced CYTOCHROME C GROUP and donates them to molecular OXYGEN, which is then reduced to water. The redox reaction is simultaneously coupled to the transport of PROTONS across the inner mitochondrial membrane.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A genus of Old World monkeys found in Africa although some species have been introduced into the West Indies. This genus is composed of at least twenty species: C. AETHIOPS, C. ascanius, C. campbelli, C. cephus, C. denti, C. diana, C. dryas, C. erythrogaster, C. erythrotis, C. hamlyni, C. lhoesti, C. mitis, C. mona, C. neglectus, C. nictitans, C. petaurista, C. pogonias, C. preussi, C. salongo, and C. wolfi.
An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.
A group of muscle diseases associated with abnormal mitochondria function.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A suborder of PRIMATES consisting of six families: CEBIDAE (some New World monkeys), ATELIDAE (some New World monkeys), CERCOPITHECIDAE (Old World monkeys), HYLOBATIDAE (gibbons and siamangs), CALLITRICHINAE (marmosets and tamarins), and HOMINIDAE (humans and great apes).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.

Reticulate evolution and the origins of ribosomal internal transcribed spacer diversity in apomictic Meloidogyne. (1/8708)

Among root knot nematodes of the genus Meloidogyne, the polyploid obligate mitotic parthenogens M. arenaria, M. javanica, and M. incognita are widespread and common agricultural pests. Although these named forms are distinguishable by closely related mitochondrial DNA (mtDNA) haplotypes, detailed sequence analyses of internal transcribed spacers (ITSs) of nuclear ribosomal genes reveal extremely high diversity, even within individual nematodes. This ITS diversity is broadly structured into two very different groups that are 12%-18% divergent: one with low diversity (< 1.0%) and one with high diversity (6%-7%). In both of these groups, identical sequences can be found within individual nematodes of different mtDNA haplotypes (i.e., among species). Analysis of genetic variance indicates that more than 90% of ITS diversity can be found within an individual nematode, with small but statistically significant (5%-10%; P < 0.05) variance distributed among mtDNA lineages. The evolutionarily distinct parthenogen M. hapla shows a similar pattern of ITS diversity, with two divergent groups of ITSs within each individual. In contrast, two diploid amphimictic species have only one lineage of ITSs with low diversity (< 0.2%). The presence of divergent lineages of rDNA in the apomictic taxa is unlikely to be due to differences among pseudogenes. Instead, we suggest that the diversity of ITSs in M. arenaria, M. javanica, and M. incognita is due to hybrid origins from closely related females (as inferred from mtDNA) and combinations of more diverse paternal lineages.  (+info)

Interaction of process partitions in phylogenetic analysis: an example from the swallowtail butterfly genus Papilio. (2/8708)

In this study, we explored how the concept of the process partition may be applied to phylogenetic analysis. Sequence data were gathered from 23 species and subspecies of the swallowtail butterfly genus Papilio, as well as from two outgroup species from the genera Eurytides and Pachliopta. Sequence data consisted of 1,010 bp of the nuclear protein-coding gene elongation factor-1 alpha (EF-1 alpha) as well as the entire sequences (a total of 2,211 bp) of the mitochondrial protein-coding genes cytochrome oxidase I and cytochrome oxidase II (COI and COII). In order to examine the interaction between the nuclear and mitochondrial partitions in a combined analysis, we used a method of visualizing branch support as a function of partition weight ratios. We demonstrated how this method may be used to diagnose error at different levels of a tree in a combined maximum-parsimony analysis. Further, we assessed patterns of evolution within and between subsets of the data by implementing a multipartition maximum-likelihood model to estimate evolutionary parameters for various putative process partitions. COI third positions have an estimated average substitution rate more than 15 times that of EF-1 alpha, while COII third positions have an estimated average substitution rate more than 22 times that of EF-1 alpha. Ultimately, we found that although the mitochondrial and nuclear data were not significantly incongruent, homoplasy in the fast-evolving mitochondrial data confounded the resolution of basal relationships in the combined unweighted parsimony analysis despite the fact that there was relatively strong support for the relationships in the nuclear data. We conclude that there may be shortcomings to the methods of "total evidence" and "conditional combination" because they may fail to detect or accommodate the type of confounding bias we found in our data.  (+info)

Evolutionary dynamics of a mitochondrial rearrangement "hot spot" in the Hymenoptera. (3/8708)

The arrangement of tRNA genes at the junction of the cytochrome oxidase II and ATPase 8 genes was examined across a broad range of Hymenoptera. Seven distinct arrangements of tRNA genes were identified among a group of wasps that have diverged over the last 180 Myr (suborder Apocrita); many of the rearrangements represent evolutionarily independent events. Approximately equal proportions of local rearrangements, inversions, and translocations were observed, in contrast to vertebrate mitochondria, in which local rearrangements predominate. Surprisingly, homoplasy was evident among certain types of rearrangement; a reversal of the plesiomorphic gene order has arisen on three separate occasions in the Insecta, while the tRNA(H) gene has been translocated to this locus on two separate occasions. Phylogenetic analysis indicates that this gene translocation is real and is not an artifactual translocation resulting from the duplication of a resident tRNA gene followed by mutation of the anticodon. The nature of the intergenic sequences surrounding this region does not indicate that it should be especially prone to rearrangement; it does not generally have the tandem or inverted repeats that might facilitate this plasticity. Intriguingly, these findings are consistent with the view that during the evolution of the Hymenoptera, rearrangements increased at the same time that the rate of point mutations and compositional bias also increased. This association may direct investigations into mitochondrial genome plasticity in other invertebrate lineages.  (+info)

Mitochondrial gene expression is regulated at the level of transcription during early embryogenesis of Xenopus laevis. (4/8708)

Mitochondrial transcription in the early Xenopus laevis embryo resumes several hours before active mtDNA replication, effectively decoupling mtDNA transcription and replication. This developmental feature makes Xenopus embryogenesis an appealing model system to investigate the regulation of mitochondrial transcription. Studies reported here refine our understanding of the timing, magnitude, and mechanism of this transcriptional induction event. Northern analyses of six mitochondrial mRNAs (normalized to mtDNA) reveal that transcript levels remain basal between fertilization and gastrulation and then undergo a coordinate induction, culminating in a 20-28-fold increase over egg levels by 48 h of development. Measurement of mitochondrial run-on transcription rates demonstrates a good correlation between transcription rates and transcript levels, showing that transcription itself is the primary determinant of transcript abundance. Experimental increases in mitochondrial ATP and energy charge also correlate with patterns of transcript levels and transcription rates, suggesting that developmental changes in the biochemical composition of the mitochondrial matrix could be regulating transcriptional activity. Consistent with this idea, transcriptional run-on rates in mitochondria of early embryos can be stimulated by the addition of tricarboxylic acid cycle intermediates to the run-on reaction. However, mitochondria of later stages do not show this response to the addition of metabolite. In combination, these data suggest that mitochondrial transcription is under metabolic regulation during early Xenopus embryogenesis.  (+info)

The yeast dynamin-like protein, Mgm1p, functions on the mitochondrial outer membrane to mediate mitochondrial inheritance. (5/8708)

The mdm17 mutation causes temperature-dependent defects in mitochondrial inheritance, mitochondrial morphology, and the maintenance of mitochondrial DNA in the yeast Saccharomyces cerevisiae. Defects in mitochondrial transmission to daughter buds and changes in mitochondrial morphology were apparent within 30 min after shifting cells to 37 degrees C, while loss of the mitochondrial genome occurred after 4-24 h at the elevated temperature. The mdm17 lesion mapped to MGM1, a gene encoding a dynamin-like GTPase previously implicated in mitochondrial genome maintenance, and the cloned MGM1 gene complements all of the mdm17 mutant phenotypes. Cells with an mgm1-null mutation displayed aberrant mitochondrial inheritance and morphology. A version of mgm1 mutated in a conserved residue in the putative GTP-binding site was unable to complement any of the mutant defects. It also caused aberrant mitochondrial distribution and morphology when expressed at high levels in cells that also contained a wild-type copy of the gene. Mgm1p was localized to the mitochondrial outer membrane and fractionated as a component of a high molecular weight complex. These results indicate that Mgm1p is a mitochondrial inheritance and morphology component that functions on the mitochondrial surface.  (+info)

Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease. (6/8708)

To determine whether pathogenic mutations in mtDNA are involved in phenotypic expression of Alzheimer's disease (AD), the transfer of mtDNA from elderly patients with AD into mtDNA-less (rho0) HeLa cells was carried out by fusion of platelets or synaptosomal fractions of autopsied brain tissues with rho0 HeLa cells. The results showed that mtDNA in postmortem brain tissue survives for a long time without degradation and could be rescued in rho0 HeLa cells. Next, the cybrid clones repopulated with exogenously imported mtDNA from patients with AD were used for examination of respiratory enzyme activity and transfer of mtDNA with the pathogenic mutations that induce mitochondrial dysfunction. The presence of the mutated mtDNA was restricted to brain tissues and their cybrid clones that formed with synaptosomes as mtDNA donors, whereas no cybrid clones that isolated with platelets as mtDNA donors had detectable mutated mtDNA. However, biochemical analyses showed that all cybrid clones with mtDNA imported from platelets or brain tissues of patients with AD restored mitochondrial respiration activity to almost the same levels as those of cybrid clones with mtDNA from age-matched normal controls, suggesting functional integrity of mtDNA in both platelets and brain tissues of elderly patients with AD. These observations warrant the reassessment of the conventional concept that the accumulation of pathogenic mutations in mtDNA throughout the aging process is responsible for the decrease of mitochondrial respiration capacity with age and with the development of age-associated neurodegenerative diseases.  (+info)

Molecular studies suggest that cartilaginous fishes have a terminal position in the piscine tree. (7/8708)

The Chondrichthyes (cartilaginous fishes) are commonly accepted as being sister group to the other extant Gnathostomata (jawed vertebrates). To clarify gnathostome relationships and to aid in resolving and dating the major piscine divergences, we have sequenced the complete mtDNA of the starry skate and have included it in phylogenetic analysis along with three squalomorph chondrichthyans-the common dogfish, the spiny dogfish, and the star spotted dogfish-and a number of bony fishes and amniotes. The direction of evolution within the gnathostome tree was established by rooting it with the most closely related non-gnathostome outgroup, the sea lamprey, as well as with some more distantly related taxa. The analyses placed the chondrichthyans in a terminal position in the piscine tree. These findings, which also suggest that the origin of the amniote lineage is older than the age of the oldest extant bony fishes (the lungfishes), challenge the evolutionary direction of several morphological characters that have been used in reconstructing gnathostome relationships. Applying as a calibration point the age of the oldest lungfish fossils, 400 million years, the molecular estimate placed the squalomorph/batomorph divergence at approximately 190 million years before present. This dating is consistent with the occurrence of the earliest batomorph (skates and rays) fossils in the paleontological record. The split between gnathostome fishes and the amniote lineage was dated at approximately 420 million years before present.  (+info)

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. (8/8708)

OBJECTIVE: To investigate the possible coexistence of mitochondrial DNA (mtDNA) mutations in patients with beta myosin heavy chain (beta MHC) linked hypertrophic cardiomyopathy (HCM) who develop congestive heart failure. DESIGN: Molecular analysis of beta MHC and mtDNA gene defects in patients with HCM. SETTING: Cardiovascular molecular diagnostic and heart transplantation reference centre in north Italy. PATIENTS: Four patients with HCM who underwent heart transplantation for end stage heart failure, and after pedigree analysis of 60 relatives, eight additional affected patients and 27 unaffected relatives. A total of 111 unrelated healthy adult volunteers served as controls. Disease controls included an additional 27 patients with HCM and 102 with dilated cardiomyopathy. INTERVENTION: Molecular analysis of DNA from myocardial and skeletal muscle tissue and from peripheral blood specimens. MAIN OUTCOME MEASURES: Screening for mutations in beta MHC (exons 3-23) and mtDNA tRNA (n = 22) genes with denaturing gradient gel electrophoresis or single strand conformational polymorphism followed by automated DNA sequencing. RESULTS: One proband (kindred A) (plus seven affected relatives) had arginine 249 glutamine (Arg249Gln) beta MHC and heteroplasmic mtDNA tRNAIle A4300G mutations. Another unrelated patient (kindred B) with sporadic HCM had identical mutations. The remaining two patients (kindred C), a mother and son, had a novel beta MHC mutation (lysine 450 glutamic acid) (Lys450Glu) and a heteroplasmic missense (T9957C, phenylalanine (Phe)-->leucine (Leu)) mtDNA mutation in subunit III of the cytochrome C oxidase gene. The amount of mutant mtDNA was higher in the myocardium than in skeletal muscle or peripheral blood and in affected patients than in asymptomatic relatives. Mutations were absent in the controls. Pathological and biochemical characteristics of patients with mutations Arg249Gln plus A4300G (kindreds A and B) were identical, but different from those of the two patients with Lys450Glu plus T9957C(Phe-->Leu) mutations (kindred C). Cytochrome C oxidase activity and histoenzymatic staining were severely decreased in the two patients in kindreds A and B, but were unaffected in the two in kindred C. CONCLUSIONS: beta MHC gene and mtDNA mutations may coexist in patients with HCM and end stage congestive heart failure. Although beta MHC gene mutations seem to be the true determinants of HCM, both mtDNA mutations in these patients have known prerequisites for pathogenicity. Coexistence of other genetic abnormalities in beta MHC linked HCM, such as mtDNA mutations, may contribute to variable phenotypic expression and explain the heterogeneous behaviour of HCM.  (+info)

Mitochondrial DNA haplotypes from the displacement-loop (D-loop) region (436 bp) were genotyped and sequenced in Japanese Black beef cattle raised in the same herd. Correlation coefficients between mitochondrial DNA haplotypes, maternal lineage, birth weight, preweaning average daily gain, weaning weight, post weaning average daily gain and yearling weight were computed. The objective was to study the relationship between maternal and postnatal growth traits and to investigate if postnatal growth of calves to yearling age could be accurately predicted from mitochondrial DNA haplotypes. Results of the phylogenetic analysis revealed 17 maternal lineages and four mitochondrial DNA haplotypes. There were strong, positive and highly significant (p,0.001) correlations among maternal traits ranging from 0.52 to 0.98. Similarly, among postnatal growth traits, most of the correlations were also strong, positive and highly significant (p,0.001); the highest correlation of 0.94 was between preweaning ...
The genetic diversity of Setipinna taty, which is commercially fished in the China Sea, was studied based on mitochondrial DNA control region sequences. PCR was used to amplify the control region fragment in 100 individuals of S. taty collected from Weihai (WH), Yantai (YT), Zhoushan (ZS), Xiangshan (XS), and Ninghai (NH) in China. A control region fragment of 656 bp was successfully sequenced in these 100 individuals. The A+T content of this S. taty control region was 71.7%; 172 variable sites and 62 haplotypes were found.
Although rapid changes in copy number and gene order are common within plant mitochondrial genomes, associated patterns of gene transcription are underinvestigated. Previous studies have shown that the gynodioecious plant species Silene vulgaris exhibits high mitochondrial diversity and occasional paternal inheritance of mitochondrial markers. Here we address whether variation in DNA molecular markers is correlated with variation in transcription of mitochondrial genes in S. vulgaris collected from natural populations. We analyzed RFLP variation in two mitochondrial genes, cox1 and atp1, in offspring of ten plants from a natural population of S. vulgaris in Central Europe. We also investigated transcription profiles of the atp1 and cox1 genes. Most DNA haplotypes and transcription profiles were maternally inherited; for these, transcription profiles were associated with specific mitochondrial DNA haplotypes. One individual exhibited a pattern consistent with paternal inheritance of mitochondrial DNA;
Objective Using real-time fluorescence quantitative PCR to detect mitochondrial DNA content changes within HepG2 cells induced by d4T and AZT. Methods HepG2 cells were treated with different concentrations(0,3,10,100,200,300μmol/L) of d4T and AZT respectively for two weeks. And then mitochondrial DNA contents were detected by real-time fluorescence quantitative PCR. Results Real-time fluorescence quantitative PCR was set up successfully to detect mitochondrial DNA contents. Mitochondrial DNA relative amounts were 96.94±5.77, 53.73±7.14, 20.78±3.10, 1.37±0.29 respectively with d4T concentrations of 0, 3, 10, 100μmol/L. The differences between groups were significant(P0.01). However, they were 96.94±5.77, 108.84±7.80, 172.56±4.70, 199.51±10.37, 158.74±6.64 and 64.06±6.27 respectively with AZT concentrations of 0, 3, 10, 100, 200, 300μmol/L, and the differences between groups were significant(P0.01). Conclusions It is practicable to detect mitochondrial DNA contents with real-time fluorescence
Exciting new studies are increasingly strengthening the link between mitochondrial mutagenesis and tumor progression. Here we provide a comprehensive review and meta-analysis of studies reporting on mitochondrial DNA mutations in common human cancers. We discuss possible mechanisms by which mitochondrial DNA mutations may influence carcinogenesis, outline important caveats for interpreting the detected mutations--particularly differentiating causality from association--and suggest how new mutational assays may help resolve fundamental controversies in the field and delineate the origin and expansion of neoplastic cell lineages. Finally, we discuss the potential clinical utility of mtDNA mutations for improving the sensitivity of early cancer diagnosis, rapidly detecting cancer recurrence, and predicting the disease outcome.. ...
From previous studies, it is known that the low OA risk haplogroup J is associated with lower serum levels of markers of collagen type-II degradation and of matrix metalloproteinases, but all of these studies failed to address the key question arising from this large body of evidence: What is the functional role of these mtDNA haplogroups?. To answer this question, Fernandez-Moreno et al7 used cytoplasmic hybrid (cybrid) cell lines. Cybrids incorporate mitochondria from human subjects and perpetuate the mtDNA-encoded components while maintaining the nuclear background of different cybrid lines as constant.16 Thus, this technique allows investigators to assess the influence of mtDNA variation on cell function. To investigate the role of mtDNA haplogroups, they also created cybrids using osteosarcoma cell lines with the same nuclear background, one of them harbouring the haplogroup J (which protects against OA) and another harbouring the haplogroup H (linked to higher risk of OA).. The cybrids ...
|jats:p|Mitochondrial DNA (mtDNA) is almost entirely maternally inherited. Thousands of copies of mtDNA are present in every nucleated cell and in most normal individuals these are virtually identical (homoplasmy). mtDNA diseases may be caused by mutations in either mitochondrial or nuclear genes and, hence, give rise to maternal or autosomal patterns of inheritance. Antenatal diagnosis of mitochondrial diseases based on chorionic villous sampling is available for Mendelian disorders and the syndromes caused by mutations at bp 8993 (associated with Leighs syndrome and neurogenic weakness, ataxia and retinitis pigmentosa (NARP)). However, prenatal diagnosis of many other maternally inherited mtDNA diseases is less reliable because it is not possible to predict with confidence the way in which heteroplasmic mtDNA mutations segregate within tissues and find clinical expression. This review focuses on the substantial progress in genetics that has been made recently, and on the management options that
Saeidi, Z., Rezvani Gilkolaei, S., Soltani, M. (2017). Short communication: Population genetic structure studies of Liza aurata based on mtDNA control region sequences analyses in the southern coasts of the Caspian Sea, Iranian Journal of Fisheries Sciences, 17(4), pp. 1341-1348. doi: 10.22092/ijfs. ...
Mitochondrial DNA (mtDNA) heteroplasmy is a potential genetic marker for forensic mtDNA analysis as well as phylogenic studies. Frequency of mtDNA …
TY - JOUR. T1 - Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. AU - Kang, Eunju. AU - Wu, Jun. AU - Gutierrez, Nuria Marti. AU - Koski, Amy. AU - Tippner-Hedges, Rebecca. AU - Agaronyan, Karen. AU - Platero-Luengo, Aida. AU - Martinez-Redondo, Paloma. AU - Ma, Hong. AU - Lee, Yeonmi. AU - Hayama, Tomonari. AU - Van Dyken, Crystal. AU - Wang, Xinjian. AU - Luo, Shiyu. AU - Ahmed, Riffat. AU - Li, Ying. AU - Ji, Dongmei. AU - Kayali, Refik. AU - Cinnioglu, Cengiz. AU - Olson, Susan. AU - Jensen, Jeffrey. AU - Battaglia, David. AU - Lee, David. AU - Wu, Diana. AU - Huang, Taosheng. AU - Wolf, Don P.. AU - Temiakov, Dmitry. AU - Belmonte, Juan Carlos Izpisua. AU - Amato, Paula. AU - Mitalipov, Shoukhrat. PY - 2016/12/8. Y1 - 2016/12/8. N2 - Maternally inherited mitochondrial (mt)DNA mutations can cause fatal or severely debilitating syndromes in children, with disease severity dependent on the specific gene mutation and the ratio of mutant to wild-type ...
Genetic Relationships of Cattle Breeds Assessed by PCR-RFLP of the Bovine Mitochondrial DNA D-loop Region - Bos Taurus;Bos Indicus;Mitochondrial DNA;PCR-RFLP;Genetic Distance;
The present invention provides methods for rapid forensic analysis of mitochondrial DNA and methods for characterizing heteroplasmy of mitochondrial DNA, which can be used to assess the progression of mitochondrial diseases.
Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother-offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.
BackgroundThe mitochondrial DNA depletion syndrome is an autosomal recessive disorder of infancy or childhood characterized by decreased mitochondrial DNA copy
PubMed journal article: Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Download Prime PubMed App to iPhone, iPad, or Android
Recombinant DNA techniques have been used to quantitate the amount of nucleotide sequence divergence in the mitochondrial DNA population of individual normal humans. Mitochondrial DNA was isolated from the peripheral blood lymphocytes of five normal humans and cloned in M13 mp11; 49 kilobases of nucleotide sequence information was obtained from 248 independently isolated clones from the five normal donors. Both between- and within-individual differences were identified. Between-individual differences were identified in approximately 1/200 nucleotides. In contrast, only one within-individual difference was identified in 49 kilobases of nucleotide sequence information. This high degree of mitochondrial nucleotide sequence homogeneity in human somatic cells is in marked contrast to the rapid evolutionary divergence of human mitochondrial DNA and suggests the existence of mechanisms for the concerted preservation of mammalian mitochondrial DNA sequences in single organisms.. ...
Many nucleoside analogue antiretroviral drugs (NRTIs) impair mitochondrial DNA (mtDNA) replication leading to reversible mtDNA depletion. It is unknown whether these drugs additionally cause mtDNA mutation. We recruited 35 HIV infected persons aged 50 years and under. Subjects were stratified by lifetime NRTI exposure. Skeletal muscle biopsies were subjected to COX (cytochrome-c oxidase) histochemistry, and individual fibres were laser captured for molecular analyses. Untreated patients showed negligible COX defects (mean 0.1%, SD 0.1%). Heavily NRTI-treated patients showed high level COX defects (mean 3.0%, SD 3.4%, maximum 9.8%). Difference between groups was statistically significant (p=0.002). Molecular analysis of individual COX-deficient fibres from treated subjects showed that the majority contained high proportional levels of mtDNA large-scale deletion mutations (41/70 fibres, 59%). Deleted species comprised a variety of mutations, each clonal within an individual fibre. No deleted mtDNA ...
Recent sequencing studies have extensively explored the somatic alterations present in the nuclear genomes of cancers. Although mitochondria control energy metabolism and apoptosis, the origins and impact of cancer-associated mutations in mtDNA are unclear. In this study, we analyzed somatic alterations in mtDNA from 1675 tumors. We identified 1907 somatic substitutions, which exhibited dramatic replicative strand bias, predominantly C | T and A | G on the mitochondrial heavy strand. This strand-asymmetric signature differs from those found in nuclear cancer genomes but matches the inferred germline process shaping primate mtDNA sequence content. A number of mtDNA mutations showed considerable heterogeneity across tumor types. Missense mutations were selectively neutral and often gradually drifted towards homoplasmy over time. In contrast, mutations resulting in protein truncation undergo negative selection and were almost exclusively heteroplasmic. Our findings indicate that the endogenous mutational
TY - JOUR. T1 - Aberrant nucleo-cytoplasmic cross-talk results in donor cell mtDNA persistence in cloned embryos. AU - Lloyd, Rhiannon. AU - Lee, J.. AU - Alberio, R.. AU - Bowles, E.. AU - Ramalho-Santos, J.. AU - Campbell, K.. AU - St John, J.. PY - 2006/4. Y1 - 2006/4. N2 - Mitochondrial DNA is an extranuclear genome normally maternally inherited through the oocyte. However, the use of nuclear transfer can result in both donor cell and recipient oocyte mitochondrial DNA persisting through to blastocyst and being transmitted to the offspring. The degree of donor mitochondrial DNA transmission appears to be random and currently no evidence exists to explain this phenomenon. To determine whether this is a dilution factor or directly related to the transcriptional status of the donor cell in respect of mitochondrial DNA transcription factors, we have generated sheep nuclear transfer embryos using donor cells: (1) possessing their full mitochondrial DNA complement, (2) those partially depleted, ...
Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts. In humans, the 16,569 base pairs of mitochondrial DNA encode for only 37 genes. Human mitochondrial DNA was the first significant part of the human genome to be sequenced. In most species, including humans, mtDNA is inherited solely from the mother. Since animal mtDNA evolves faster than nuclear genetic markers, it represents a mainstay of phylogenetics and evolutionary biology. It also permits an examination of the relatedness of populations, and so has become important in anthropology and biogeography. Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA ...
Mitochondrial dysfunction, generally characterized as a loss of efficiency in oxidative phosphorylation, is a hallmark of aging and a variety of chronic diseases. Mitochondrial dysfunction results in inefficient cellular energy production and in increased levels of reactive oxygen species (ROS) which may damage lipids, proteins, and nucleic acids. Mitochondrial dysfunction also affects the expression of nuclear genes involved in metabolism, growth, differentiation, and apoptosis. All these changes may explain the contribution of mitochondrial dysfunction to chronic and complex human diseases. A major limitation to the routine evaluation of mitochondrial dysfunction in clinical practice is the lack of reliable measures of mitochondrial dysfunction available for clinical use. Mitochondrial DNA copy number (mtDNA-CN) is a promising biomarker of mitochondrial dysfunction that has the potential to become widely available in clinical practice. Other measures of mitochondrial dysfunction, including ...
Although highly active antiretroviral therapy (HAART) has been extremely effective in lowering AIDS incidence among patients infected with HIV, certain drugs included in HAART can cause serious mitochondrial toxicities. One of the most frequent adverse events is lipoatrophy, which is the loss of subcutaneous fat in the face, arms, buttocks, and/or legs as an adverse reaction to nucleoside reverse transcriptase inhibitors. The clinical symptoms of lipoatrophy resemble those of inherited mitochondrial diseases, which suggest that host mitochondrial genotype may play a role in susceptibility. We analyzed the association between mitochondrial haplogroup and severity of lipoatrophy in HIV-infected European American patients on HAART in the Multicenter AIDS cohort Study and found that mitochondrial haplogroup H was strongly associated with increased atrophy [arms: P = 0.007, odds ratio (OR) = 1.77, 95% confidence interval (CI) = 1.17 to 2.69; legs: P = 0.037, OR = 1.54, 95% CI = 1.03 to 2.31; and ...
TY - JOUR. T1 - Alterations of mitochondrial DNA in common diseases and disease states. T2 - Aging, neurodegeneration, heart failure, diabetes and cancer. AU - Kang, Dongchon. AU - Hamasaki, Naotaka. PY - 2005/1/1. Y1 - 2005/1/1. N2 - It has long been considered that mitochondrial DNA disease is a rare genetic disorder causing neuromyopathy. However, alterations of mitochondrial DNA recently have been recognized to play an important role in the pathogenesis of so-called common diseases such as heart failure, diabetes, and cancer. Although some of these alterations are inherited, more and more attention is being focused on the accumulation of mitochondrial DNA mutations in somatic cells, particularly terminally differentiated cells such as cardiomyocytes and neurons that occurs with age. Mitochondrial DNA is more vulnerable to alteration than nuclear DNA, mainly for two reasons. First, mitochondria are a major source of intracellular reactive oxygen species (ROS). Therefore mitochondrial DNA is ...
We had previously found that 6-month survival in sepsis patients was significantly associated with platelet COX quantity [4]. However, 1-month survival is a more frequently used parameter in critically ill patients; and we have found that this parameter is also significantly associated with platelet COX quantity. We had previously observed that COX levels can be determined by mtDNA genetic background [6], and other investigators showed that mtDNA haplogroups modified 6-month survival [9]. Here we show that the mtDNA haplogroup determines the platelet COX quantity in sepsis patients and that those patients from the JT mtDNA haplogroup had higher survival rate than those from other mtDNA haplogroups.. The JT mtDNA haplogroup is defined by polymorphisms in nucleotide positions m.4216T , C/MT-ND1, m.11251A , G/MT-ND4, m.15452C , A/MT-CYB and m.16126T , C/MT-DLOOP. The last polymorphism is located in the control region, out of any important sequence for the regulation of mtDNA replication and ...
Clinical presentation of the patients with mitochondrial DNA depletion is quite diverse and is suggestive of genetic heterogeneity. Autosomal recessive inheritance of the disease appears likely, thus implying the nuclear origin of the disease. This has been demonstrated recently in large families wi …
We have analyzed nucleotide sequence variation in an approximately 900-base pair region of the human mitochondrial DNA molecule encompassing the heavy strand origin of replication and the D-loop. Our analysis has focused on nucleotide sequences available from seven humans. Average nucleotide diversity among the sequences is 1.7%, several-fold higher than estimates from restriction endonuclease site variation in mtDNA from these individuals and previously reported for other humans. This disparity is consistent with the rapidly evolving nature of this noncoding region. However, several instances of convergent or parallel gain and loss of restriction sites due to multiple substitutions were observed. In addition, other results suggest that restriction site (as well as pairwise sequence) comparisons may underestimate the total number of substitutions that have occurred since the divergence of two mtDNA sequences from a common ancestral sequence, even at low levels of divergence. This emphasizes the ...
There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA) diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G|A and m.14484T|C occur at higher frequency than expected by change in the Galician (northwest Spain) patients carrying haplogroup J lineages (Fishers Exact test, P-value | 0.01). The assay performs well in mixture experiments of wild:mutant DNAs that emulate heteroplasmic conditions in
To construct maternal phylogeny and prehistoric dispersals of modern human being in the Indian sub continent, a diverse subset of 641 complete mitochondrial DNA (mtDNA) genomes belonging to macrohaplogroup M was chosen from a total collection of 2,783 control-region sequences, sampled from 26 selected tribal populations of India. On the basis of complete mtDNA sequencing, we identified 12 new haplogroups - M53 to M64; redefined/ascertained and characterized haplogroups M2, M3, M4, M5, M6, M8′C′Z, M9, M10, M11, M12-G, D, M18, M30, M33, M35, M37, M38, M39, M40, M41, M43, M45 and M49, which were previously described by control and/or coding-region polymorphisms. Our results indicate that the mtDNA lineages reported in the present study (except East Asian lineages M8′C′Z, M9, M10, M11, M12-G, D ) are restricted to Indian region.The deep rooted lineages of macrohaplogroup M suggest in-situ origin of these haplogroups in India. Most of these deep rooting lineages are represented by multiple ...
Abstract Genetic studies of the distribution of mitochondrial DNA (mtDNA) haplogroups in human populations residing within the Carpathian Mountain range have been scarce. We present an analysis of mtDNA haplogroup composition of the Boykos, Hutsuls, and Lemkos, three population groups of the Carpathian highlands. In our study Hutsuls had the highest frequency of subhaplogroup H1 in central and eastern Europe. Lemkos shared the highest frequency of haplogroup I ever reported and the highest frequency of haplogroup M* in the region. MtDNA haplogroup frequencies in Boykos were different from most modern European populations. We interpreted these unique mtDNA frequencies to be evidence of diverse and dynamic population histories in the Carpathian highland region. ...
Mitochondrial diseases include a group of maternally inherited genetic disorders caused by mutations in mtDNA. In most of these patients, mutated mtDNA coexists with wild-type mtDNA, a situation known as mtDNA heteroplasmy. Here, we report on a strategy toward preventing germline transmission of mitochondrial diseases by inducing mtDNA heteroplasmy shift through the selective elimination of mutated mtDNA. As a proof of concept, we took advantage of NZB/BALB heteroplasmic mice, which contain two mtDNA haplotypes, BALB and NZB, and selectively prevented their germline transmission using either mitochondria-targeted restriction endonucleases or TALENs. In addition, we successfully reduced human mutated mtDNA levels responsible for Leber?s hereditary optic neuropathy (LHOND), and neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), in mammalian oocytes using mitochondria-targeted TALEN (mito-TALENs). Our approaches represent a potential therapeutic avenue for preventing the ...
article{39c3420c-566c-4f24-879b-c3929d10ccd7, abstract = {It has been suggested that mitochondrial dysfunction and DNA damage are involved in lymphomagenesis. Increased copy number of mitochondrial DNA (mtDNA) as a compensatory mechanism of mitochondrial dysfunction previously has been associated with B-cell lymphomas, in particular chronic lymphocytic leukemia (CLL). However, current evidence is limited and based on a relatively small number of cases. Using a nested case-control study, we extended these findings with a focus on subtype specific analyses. Relative mtDNA copy number was measured in the buffy coat of prospectively collected blood of 469 lymphoma cases and 469 matched controls. The association between mtDNA copy number and the risk of developing lymphoma and histologic subtypes was examined using logistic regression models. We found no overall association between mtDNA and risk of lymphoma. Subtype analyses revealed, significant increased risks of CLL (n=102) with increasing mtDNA ...
Understanding the mechanisms governing transcription of the mammalian mitochondrial DNA genome may offer the possibility of novel treatments for human diseases of mitochondrial dysfunction. In an Advanced Online Publication in Nature Genetics, Falkenberg et al. report the characterization of two proteins that behave as transactivating factors to regulate mitochondrial DNA transcription (Nature Genetics, 17 June 2002, DOI:10.1038/ng909). They performed a sequence homology search to discover two genes (TFB1M and TFB2M) that resemble the yeast Mtf1 protein and bacterial rRNA dimethyltransferases. The two proteins are ubiquitously expressed and are localized in the mitochondria. Both of these mitochondrial proteins can drive mitochondrial DNA transcription in vitroin the presence of mitochondrial RNA polymerase (POLRMT) and transcription factor A (TFAM). ...
Nutrition during early childhood is linked to metabolic programming. We hypothesized that breastfeeding has long-term consequences on the energy metabolism exemplified by mitochondrial DNA (mtDNA). As part of the third cycle of the Flemish Environment and Health Study (FLEHSIII) cohort, 303 adolescents aged 14-15 years were included. We associated breastfeeding and blood mtDNA content 14-15 years later while adjusting for confounding variables. Compared with non-breastfed adolescents, mtDNA content was 23.1% (95%CI: 4.4-45.2; p = 0.013) higher in breastfed adolescents. Being breastfed for 1-10 weeks, 11-20 weeks, and |20 weeks, was associated with a higher mtDNA content of respectively 16.0% (95%CI: −7.1-44.9; p = 0.191), 23.5% (95%CI: 0.8-51.3; p = 0.042), and 31.5% (95%CI: 4.3-65.7; p = 0.021). Our study showed a positive association between breastfeeding and mtDNA content in adolescents which gradually increased with longer periods of breastfeeding. Higher mtDNA content may be an underlying
Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago.[citation needed] Haplogroup L1 is a daughter of L1-6 and genetic marker changes are 3666, 7055, 7389, 13789, 14178 and 14560. Although it is typically used to denote a group of lineages found within Africa, L1 is sometimes referred to as haplogroup L1-6. The latter is the macrohaplogroup that includes the majority of Africa-based clades and all haplogroups centered outside of the continent. Haplogroup L1-6 is the macrohaplogroup that includes subclades L1, L2, L4, L5, L6, and also L3, which gave rise to the two non-African haplogroups M and N. Haplogroup L1-6 and its only sibling haplogroup L0 are united by the matrilineal most recent common ancestor, (MRCA) of all living humans, Mitochondrial Eve. The existence of these two lineages, implies that Mitochondrial Eve had at least two daughters, one of whom is the maternal common ancestor of haplogroup L1-6 lineages.[citation needed] ...
The mechanisms by which paternal inheritance of mitochondrial DNA (mtDNA) (paternal leakage) and, subsequently, recombination of mtDNA are prevented vary in a species-specific manner with one mechanism in common: paternally derived mtDNA is assumed to be vastly outnumbered by maternal mtDNA in the zygote. To date, this dilution effect has only been described for two mammalian species, human and mouse. Here, we estimate the mtDNA content of chinook salmon oocytes to evaluate the dilution effect operating in another vertebrate; the first such study outside a mammalian system. Employing real-time PCR, we determined the mtDNA content of chinook salmon oocytes to be 3.2 × 109±1.0 × 109, and recently, we determined the mtDNA content of chinook salmon sperm to be 5.73±2.28 per gamete. Accordingly, the ratio of paternal-to-maternal mtDNA if paternal leakage occurs is estimated to be 1:5.5 × 108. This contribution of paternal mtDNA to the overall mtDNA pool in salmon zygotes is three to five orders of
The study presents South American mitochondrial DNA (mtDNA) data from selected north (N = 98), central (N = 193) and south (N = 47) Argentinean populations. Sequence analysis of the complete mtDNA con
During the last few years, mitochondrial DNA has attained much attention as a modulator of immune responses. Due to common evolutionary origin, mitochondrial DNA shares various characteristic features with DNA of bacteria, as it consists of a remarkable number of unmethylated DNA as 2′-deoxyribose cytidine-phosphate-guanosine (CpG) islands. Due to this particular feature, mitochondrial DNA seems to be recognized as a pathogen-associated molecular pattern by the innate immune system. Under the normal physiological situation, mitochondrial DNA is enclosed in the double membrane structure of mitochondria. However, upon pathological conditions, it is usually released into the cytoplasm. Growing evidence suggests that this cytosolic mitochondrial DNA induces various innate immune signaling pathways involving NLRP3, toll-like receptor 9, and stimulator of interferon genes (STING) signaling, which participate in triggering downstream cascade and stimulating to produce effector molecules. Mitochondrial DNA is
Holyoake, A. J., McHugh, Patrick C, Wu, M., OCarroll, S., Benny, P., Sin, I. L. and Sin, F. Y. T. (2002) Research of single mitochondrial nucleotide substitutions in male infertility should consider human mitochondrial haplogroups - Reply. International Journal of Andrology, 25 (6). p. 374. ISSN 0105-6263 Metadata only available from this repository ...
TY - JOUR. T1 - Mitochondrial DNA mutations cause resistance to opening of the permeability transition pore. AU - Mott, Justin L.. AU - Zhang, Dekui. AU - Chang, Shin Wen. AU - Zassenhaus, H. Peter. N1 - Funding Information: We thank Dr. T. Heyduk for his assistance with fluorescence assays. We gratefully acknowledge grant support from the National Institutes of Health (NHLBI and NIA) and the American Heart Association to HPZ and from the American Diabetes Association to JLM.. PY - 2006/5. Y1 - 2006/5. N2 - The age-related accumulation of mitochondrial DNA mutations has the potential to impair organ function and contribute to disease. In support of this hypothesis, accelerated mitochondrial mutagenesis is pathogenic in the mouse heart, and there is an increase in myocyte apoptosis. The current study sought to identify functional alterations in cell death signaling via mitochondria. Of particular interest is the mitochondrial permeability transition pore, opening of which can initiate cell death, ...
Mammal adipose tissues require mitochondrial activity for proper development and differentiation. The components of the mitochondrial respiratory chain/oxidative phosphorylation system (OXPHOS) are encoded by both mitochondrial and nuclear genomes. The maintenance of mitochondrial DNA (mtDNA) is a key element for a functional mitochondrial oxidative activity in mammalian cells. To ascertain the role of mtDNA levels in adipose tissue, we have analyzed the alterations in white (WAT) and brown (BAT) adipose tissues in thymidine kinase 2 (Tk2) H126N knockin mice, a model of TK2 deficiency-induced mtDNA depletion. We observed respectively severe and moderate mtDNA depletion in TK2-deficient BAT and WAT, showing both tissues moderate hypotrophy and reduced fat accumulation. Electron microscopy revealed altered mitochondrial morphology in brown but not in white adipocytes from TK2-deficient mice. Although significant reduction in mtDNA-encoded transcripts was observed both in WAT and BAT, protein levels from
Mitochondria are the organelles responsible for producing the majority of a cells ATP and also play an essential role in gamete maturation and embryo development. ATP production within the mitochondria is dependent on proteins encoded by both the nuclear and the mitochondrial genomes, therefore co-ordination between the two genomes is vital for cell survival. To assist with this co-ordination, cells normally contain only one type of mitochondrial DNA (mtDNA) termed homoplasmy. Occasionally, however, two or more types of mtDNA are present termed heteroplasmy. This can result from a combination of mutant and wild-type mtDNA molecules or from a combination of wild-type mtDNA variants. As heteroplasmy can result in mitochondrial disease, various mechanisms exist in the natural fertilization process to ensure the maternal-only transmission of mtDNA and the maintenance of homoplasmy in future generations. However, there is now an increasing use of invasive oocyte reconstruction protocols, which tend ...
Sharma et al. BMC Genetics (2015) 16:73 DOI 10.1186/s12863-015-0221-0. ^BMC Genetics. RESEARCH ARTICLE. Open Access. Genetic diversity and relationship of Indian cattle inferred from microsatellite and mitochondrial DNA markers. CrossMark. Rekha Sharma , Amit Kishore, Manishi Mukesh, Sonika Ahlawat, Avishek Maitra, Ashwni Kumar Pandey and Madhu Sudan Tantia. Abstract. Background: Indian agriculture is an economic symbiosis of crop and livestock production with cattle as the foundation. Sadly, the population of indigenous cattle (Bos indicus) is declining (8.94 % in last decade) and needs immediate scientific management. Genetic characterization is the first step in the development of proper management strategies for preserving genetic diversity and preventing undesirable loss of alleles. Thus, in this study we investigated genetic diversity and relationship among eleven Indian cattle breeds using 21 microsatellite markers and mitochondrial D loop sequence.. Results: The analysis of autosomal DNA ...
The mitochondrial genome is maternally inherited and harbors 37 genes in a circular molecule of approximately 16.6 kb that is present in hundreds to thousands of copies per cell [1] and has accumulated mutations at a rate at least an order of magnitude higher than its nuclear counterpart [2, 3]. Frequently, more than one mtDNA variant is present in the same individual, a phenomenon called heteroplasmy [4]. The mitochondrial genome is implicated in hundreds of diseases (over 200 catalogued at [5] as of mid-2010) with the majority of them caused by point mutations [6]. Multiple mtDNA mutations might also predispose one to common metabolic and neurological diseases of advanced age, such as diabetes as well as Parkinsons and Alzheimers diseases [7]. Additionally, mtDNA mutations appear to have a role in cancer etiology [8]. Many disease-causing mtDNA variants are heteroplasmic and their clinical manifestation depends on the relative proportion of mutant versus normal mitochondrial genomes [7, 9, ...
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identified heterozygous missense mutations in single-strand binding protein 1 (SSBP1) in 5 unrelated families, leading to the R38Q and R107Q amino acid changes in the mitochondrial single-stranded DNA-binding protein, a crucial protein involved in mtDNA replication. All affected individuals presented optic atrophy, associated with foveopathy in half of the cases. To uncover the structural features underlying SSBP1 mutations, we determined a revised SSBP1 crystal structure. Structural analysis suggested that both mutations affect dimer interactions and presumably distort the DNA-binding region. Using patient fibroblasts, we validated that the R38Q variant destabilizes SSBP1 dimer/tetramer formation, affects mtDNA replication, and induces mtDNA depletion. Our study showing that mutations in ...
The mitochondrial DNA (mtDNA) is highly variable, containing large numbers of pathogenic mutations and neutral polymorphisms. The spectrum of homoplasmic mtDNA variation was characterized in 730 subjects and compared with known pathogenic sites. The frequency and distribution of variants in protein coding genes were inversely correlated with conservation at the amino acid level. Analysis of tRNA secondary structures indicated a preference of variants for the loops and some acceptor stem positions. This comprehensive overview of mtDNA variants distinguishes between regions and positions which are likely not critical, mainly conserved regions with pathogenic mutations and essential regions containing no mutations at all. ...
In this large prospective study of a general population of Northern European descent, no evidence was found for consistent and robust associations between mitochondrial haplogroups and risk of ischemic cardiovascular disease, morbidity from other causes, or mortality. In contrast, several smaller case-control studies have shown associations between mitochondrial haplogroups and myocardial infarction, cerebral infarction, cancer, diabetes mellitus, and neurodegenerative diseases.18-36. The Asian N9b haplogroup (defined by polymorphisms at positions mt5147 and mt16519) has been reported to protect against myocardial infarction in Japanese men (odds ratio [95% CI], 0.2 [0.1 to 0.5]; 920 cases/522 controls) but not in Japanese women (695 cases/434 controls).19 It has been speculated that this reduction in risk of myocardial infarction could be due to a reduction in the production of superoxide and other reactive oxygen species associated with this particular haplogroup19 that thus might confer ...
Mammalian mitochondrial DNA (mtDNA) resides in compact nucleoids, where it is replicated and transcribed into long primary transcripts processed to generate rRNAs, tRNAs, and mRNAs encoding 13 proteins. This situation differs from bacteria and eukaryotic nucleoli, which have dedicated rRNA transcrip …
Endometrial carcinoma is the most commonly diagnosed gynaecological cancer in developed countries. Although the molecular genetics of this disease has been in the focus of many research laboratories for the last 20 years, relevant prognostic and diagnostic markers are still missing. At the same time mitochondrial DNA mutations have been reported in many types of cancer during the last two decades. It is therefore very likely that the mitochondrial genotype is one of the cancer susceptibility factors. To investigate the presence of mtDNA somatic mutations and distribution of inherited polymorphisms in endometrial adenocarcinoma patients we analyzed the D-loop sequence of cancer samples and their corresponding normal tissues and moreover performed mitochondrial haplogroup analysis. We detected 2 somatic mutation and increased incidence of mtDNA polymorphisms, in particular 16223C (80% patients, p = 0.005), 16126C (23%, p = 0.025) and 207A (19%, p = 0.027). Subsequent statistical analysis revealed that
Three pairs of parental (ρ+) and established mitochondrial DNA depleted (ρ0) cells, derived from bone, lung and muscle were used to verify the influence of the nuclear background and the lack of efficient mitochondrial respiratory chain on antioxidant defences and homeostasis of intracellular reactive oxygen species (ROS). Mitochondrial DNA depletion significantly lowered glutathione reductase activity, glutathione (GSH) content, and consistently altered the GSH2 : oxidized glutathione ratio in all of the ρ0 cell lines, albeit to differing extents, indicating the most oxidized redox state in bone ρ0 cells. Activity, as well as gene expression and protein content, of superoxide dismutase showed a decrease in bone and muscle ρ0 cell lines but not in lung ρ0 cells. GSH peroxidase activity was four times higher in all three ρ0 cell lines in comparison to the parental ρ+, suggesting that this may be a necessary adaptation for survival without a functional respiratory chain. Taken together, ...
2) Mitochondrial disorders caused by mutations in nuclear genes encoding fro mitochondrial proteins.. The Laboratory of Biochemistry and Genetics has developed equipment and a strong know-how to face the challenge of the diagnosis of the mitochondrial disorders. We are particularly involved in study of disorders resulting from an impaired maintenance of mitochondrial DNA or originating from matrilineal mutations inherited along the mitochondrial DNA.. Southern blot analysis of mitochondrial DNA is the classical technique used to detect macro-rearrangements such as single deletion, multiple deletions and duplications.. In adult patients, this method is able to disclose the presence of mitochondrial genomes featuring a partial or improper replication or repair, resulting in the accumulation of multiple mitochondrial DNA deletions in post mitotic tissues, including skeletal muscle. This analysis is complemente by novel approaches based on conventional or quantitative PCR.. The presence of specific ...
Mitochondrial DNA. 25 (6): 437-438. doi:10.3109/19401736.2013.809448. ISSN 1940-1736. OCLC 5699334616. PMID 23834082. Jeong, ... The complete mitochondrial genome was investigated in 2014. The genome is 16,906 base pairs in length, and contains 2 rRNA, 22 ... Jeong, Dageum; Kim, Sung; Kim, Choong-Gon; Lee, Youn-Ho (8 July 2013). "The complete mitochondrial genome of the Korean skate: ...
"The complete mitochondrial genome of Glaucidium brodiei (Strigiformes: Strigidae)". Mitochondrial DNA. 27 (4): 2508-2509. doi: ... It was moved to the genus Glaucidium based on a comparison of mitochondrial DNA sequences and proved to be closely related to ...
Mitochondrial DNA. 27 (3): 1862-1863. doi:10.3109/19401736.2014.971261. PMID 25319286. S2CID 207726883. http://www. ... "Complete mitochondrial genomes of paired species northern brook lamprey ( Ichthyomyzon fossor ) and silver lamprey ( I. ...
Mitochondrial DNA. 25 (3): 204-5. doi:10.3109/19401736.2013.796465. PMID 23795841. Pantaleão, João A F; Gregati, Rafael A; Da ...
Huang H (February 2020). "The complete chloroplast genome of Aquilegia barnebyi, a basal eudicot species". Mitochondrial DNA. ... Analysis of chloroplast DNA showed A. barnebyi is closely related to A. coerulea, a species of Aquilegia native to southern ...
"Characterization of the mitochondrial genome of Rousettus leschenaulti". Mitochondrial DNA. 25 (6): 443-444. doi:10.3109/ ... Colgan, D. J.; Flannery, T. F. (1995). "A Phylogeny of Indo-West Pacific Megachiroptera Based on Ribosomal DNA". Systematic ... based on direct optimization analysis of one nuclear and four mitochondrial genes". Cladistics. 19 (6): 496-511. doi:10.1111/j. ... likely originated on the Sunda Shelf based on results of a Weighted Ancestral Area Analysis of six nuclear and mitochondrial ...
... based on mitochondrial and nuclear gene markers". Mitochondrial Dna. Part A, DNA Mapping, Sequencing, and Analysis. 29 (8): ...
Mitochondrial DNA. 26: 147-148. doi:10.3109/19401736.2013.819496. PMID 23901915. v t e. ... Shedko, SV; Miroshnichenko, IL; Nemkova, GA (Jul 31, 2013). "Complete mitochondrial genome of the poorly known Amur sculpin ...
Mitochondrial DNA. 27 (2): 1-2. doi:10.3109/19401736.2014.936421. PMID 25028790. Heptner, V. G.; Sludskij, A. A. (1992) [1972 ... "Phylogenetic study of extirpated Korean leopard using mitochondrial DNA from an old skin specimen in South Korea". PeerJ. 8: ... The complete mitochondrial genome of a wild male leopard specimen from Shaanxi Province in central China has been amplified and ... Dou, H.; Feng, L.; Xiao, W. & Wang, T. (2014). "The complete mitochondrial genome of the North Chinese Leopard (Panthera pardus ...
The complete mitochondrial genome of the gnomefish, Scombrops Gilberti". Mitochondrial DNA. 27 (5): 1-3. doi:10.3109/ ...
Mitochondrial DNA. 27 (3): 1878-9. doi:10.3109/19401736.2014.971268. PMID 25319303. S2CID 3306196. Ono, H. (1978). "Thomisidae ... The complete mitochondrial genome of the type species O. striatipes was determined in 2014. Like other crab spiders, they are ... Kim, Ji Young; Yoo, Jung Sun; Park, Yung Chul (16 October 2014). "The complete mitochondrial genome of the green crab spider ( ...
The mitochondrial DNA of 27 wolves from the Himalayas and the Tibetan Plateau was compared in 2004. Results indicate that five ... It is distinguished by its genetic markers, with mitochondrial DNA indicating that it is genetically basal to the Holarctic ... in 2007 for wolf specimens from the Indian Himalayas that differed in mitochondrial DNA from specimens collected in other parts ... Aggarwal, R. K.; Kivisild, T.; Ramadevi, J.; Singh, L. (2007). "Mitochondrial DNA coding region sequences support the ...
"The complete mitochondrial genome sequence of Tor sinensis(Cypriniformes, Cyprinidae)". Mitochondrial DNA. 26 (5): 712-713. doi ... claim to have determined the complete mitochondrial genome of Tor sinensis, which, if the species identification is correct, ...
The mitochondrial DNA has been sequenced and found to be 15,183 base pair in size. In addition, the butterfly has been a ... Mitochondrial DNA. 23 (4): 318-320. doi:10.3109/19401736.2012.684093. PMID 22708853. S2CID 33406633. Wynter-Blyth, M.A. (1957 ... Qin XM, Guan QX, Zeng DL, Qin F, Li HM (August 2012). "Complete mitochondrial genome of Kallima inachus (Lepidoptera: ...
"DNA barcoding of a colonial ascidian, Lissoclinum fragile (Van Name, 1902)". Mitochondrial DNA. 28: 810-813. doi:10.1080/ ...
"The complete mitochondrial genome of the moon moth,Actias aliena(Lepidoptera: Saturniidae)". Mitochondrial DNA. 27 (1): 149-150 ... Its mitochondrial genome has been sequenced. Larva (color of the body just before the pupal stage) Zolotuhin, V.V., 2011: The ...
"The complete mitochondrial genome of Anas poecilorhyncha (Anatidae: Anas)". Mitochondrial DNA. 26 (2): 265-266. doi:10.3109/ ... A molecular phylogenetic study published in 2009 that compared mitochondrial DNA sequences from ducks, geese and swans in the ... leading to a closeness in their mitochondrial DNA that alters the apparent phylogenies. Two subspecies are recognised although ... A 2014 study, however, shows that there is discordance between the phylogenies obtained using nuclear DNA sequences; the Indian ...
"The complete mitochondrial genome of a striped sole Zebrias zebrinus (Pleuronectiformes: Soleidae)". Mitochondrial DNA. 24 (6 ... Studies have been committed that have successfully mapped its complete mitochondrial genome. The species is found within ...
Mitochondrial DNA. 22 (4): 143-153. doi:10.3109/19401736.2011.624613. PMID 22040082. S2CID 23016645.CS1 maint: uses authors ... Aquino; Tango; Canoy; Fontanilla; Basiao; Ong; and Quilang (2011). "DNA barcoding of fishes of Laguna de Bay, Philippines". ...
Mitochondrial DNA. 25 (6): 454-455. doi:10.3109/19401736.2013.814117. ISSN 1940-1736. PMID 23901931. S2CID 6204808.. ... Shi, Wei; Gong, Li; Wang, Shu-Ying; Kong, Xiao-Yu (2013-07-31). "The complete mitochondrial genome ofSolea ovata( ...
... inferred from mitochondrial and nuclear DNA sequences". Systematic Biology. 55 (3): 454-70. doi:10.1080/10635150600697390. PMID ... Mitochondrial DNA. 25 (6): 424-426. doi:10.3109/19401736.2013.809440. PMID 23841618. S2CID 7865866. Sick, Helmut (1990). "Notes ... However, recent molecular DNA studies indicate that pachyrhyncha and its sister species terrisi in genus Rhynchopsitta are ... Retrieved 26 November 2013.old-form url Urantowka, A.D.; Strzała, T.; Grabowski, K.A. (2014). "Complete mitochondrial genome of ...
Mitochondrial DNA. 24 (5): 501−503. doi:10.3109/19401736.2013.770504. PMID 23577614. Meng, X.; Cody, N.; Gong, B.; Xiang, L. ( ... Yang, C.; Xiang, C.; Zhang, X.; Yue, B. (2013). "The Complete Mitochondrial Genome of the Alpine Musk Deer (Moschus ...
... new data based on ancient mitochondrial DNA and phylogenetic analysis of Afalou and Taforalt populations". Mitochondrial DNA. ... General Ian Logan's Mitochondrial DNA Site Mannis van Oven's Phylotree Haplogroup U Danish Demes Regional DNA Project: mtDNA ... Mitochondrial DNA recovered from 3,500 to 3,300-year-old remains at the Bredtoftegård site in Denmark associated with the ... "U7 Haplogroup Mitochondrial DNA Project". Archived from the original on 2 June 2014. Rudbeck L, Gilbert MT, Willerslev E, ...
Sequencing of mitochondrial DNA of two specimens of Theragra finnmarchica and 10 Theragra chalcogramma (today: Gadus ... Mitochondrial DNA. 19 (6): 490-496. doi:10.1080/19401730802570942. PMID 19489135. S2CID 11001548. Sackton, John (4 March 2014 ...
"The complete mitochondrial genome ofLeuciscus leuciscus baicalensis(Cypriniformes: Cyprinidae)". Mitochondrial DNA. 26 (5): 751 ... The complete mitochondrial genome of Leuciscus baicalensis has a mostly conserved structural organization and it is 16,606 bp ...
Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis. 29 (6): 867-878. doi:10.1080/24701394.2017.1376052. PMID ... Fields, A. T.; Fischer, G. A.; Shea, S. K. H.; Zhang, H.; Feldheim, K. A.; Chapman, D. D. (2020). "DNA Zip-coding: identifying ... 2008 Fountain, Henry (2007-05-23). "Female sharks reproduce without male DNA, scientists say". The New York Times, New York ... "Molecular phylogeny of elasmobranchs inferred from mitochondrial and nuclear markers". Molecular Biology Reports. 41 (1): 447- ...
... genetic analysis via DNA-DNA hybridization and mitochondrial cytochrome b DNA by Beth Slikas in 1997 found that it was basal ( ... based on complete mitochondrial genome". Mitochondrial DNA. 27 (1): 261-262. doi:10.3109/19401736.2014.883616. ISSN 1940-1736. ... Slikas, Beth (1997). "Phylogeny of the Avian Family Ciconiidae (Storks) Based on CytochromebSequences and DNA-DNA Hybridization ...
Hsu, K.-C.; Bor, H.; Lin, H.-D.; Kuo, P.-H.; Tan, M.-S.; Chiu, Y.-W. (2014). "Mitochondrial DNA phylogeography of ... Mitochondrial DNA. 26 (6): 897-898. doi:10.3109/19401736.2013.861449. PMID 24409867. S2CID 207546279. Kim, C. W. (1970). "Study ... The complete mitochondrial genome of Semisulcospira libertina is known since 2015. Its length is 15,432 bp. It was the first ... 2013) studied mitochondrial haplotypes of Semisulcospira libertina from Korea and from Japan. Mixed haplotypes in Korea suggest ...
Mitochondrial DNA. 24 (6): 636-8. doi:10.3109/19401736.2013.772161. PMID 23442187. "Papilio bianor". butterflycorner.net. " ... Dong Y, Zhu LX, Wu YF, Wu XB (December 2013). "The complete mitochondrial genome of the Chinese peacock, Papilio bianor ( ... based on third-generation DNA sequencing and Hi-C analysis". GigaScience. 8 (11). doi:10.1093/gigascience/giz128. PMC 6827417. ...
Mitochondrial DNA. 27 (3): 1995-6. doi:10.3109/19401736.2014.974158. PMID 25329260. S2CID 46858975. Gibert, Luís; Scott, Gary R ... Hofman, Sebastian; Pabijan, Maciej; Osikowski, Artur; Szymura, Jacek M. (2014). "Complete mitochondrial genome of the Greek ...
Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 由於粒線體缺乏用來檢查複製錯誤的能力,因此粒線體DNA(mDNA)的變異速率比細胞核DNA(一般所指的DNA)更快。
An alternative (acidic) pathway of bile acid synthesis is initiated by mitochondrial sterol 27-hydroxylase (CYP27A1), expressed ... and also increase DNA damage.[38] Mice fed a diet with added DCA mimicking colonic DCA levels in humans on a high fat diet ...
... studies of mitochondrial control region and cytochrome b DNA sequences placed it near Capreolus within an Old World section of ... Douzery, E.; Randi, E. (November 1997). "The mitochondrial control region of Cervidae: evolutionary patterns and phylogenetic ... "New phylogenetic perspectives on the Cervidae (Artiodactyla) are provided by the mitochondrial cytochrome b gene". Proceedings ...
An analysis of mitochondrial DNA sequences published in 2003 confirmed that the black-billed magpie and the yellow-billed ... A more recent study using both mitochondrial and nuclear DNA found that magpies in east and northeast China are genetically ...
... s are differentiated in their mitochondrial DNA between North American and Eurasian populations,[17] but the nuclear ... Inferences from mitochondrial DNA". BMC Genetics. 12 (99): 99. doi:10.1186/1471-2156-12-99. PMC 3258206. PMID 22093799.. ... Mitochondrial DNA data for the D-loop sequence suggests that mallards may have evolved in the general area of Siberia. Mallard ... "Mitochondrial gene trees and the evolutionary relationship of Mallard and Black Ducks" (PDF). Evolution. 44 (4): 1109-1119. ...
Introns are common in chloroplast DNA molecules, while they are rare in prokaryotic DNA molecules (plant mitochondrial DNAs ... DNA replicationEdit. Leading model of cpDNA replicationEdit. Chloroplast DNA replication via multiple D loop mechanisms. ... Chloroplast DNA Interactive gene map of chloroplast DNA from Nicotiana tabacum. Segments with labels on the inside reside on ... Chloroplast DNA has long been thought to have a circular structure, but some evidence suggests that chloroplast DNA more ...
... comparative cytogenetics and analysis of mitochondrial DNA". The Journal of Heredity. 82 (6): 447-52. doi:10.1093/ ...
This was further confirmed by molecular studies of their DNA.[6] These also showed that the brolga is more closely related to ... "Mitochondrial genome sequences and the phylogeny of cranes (Gruiformes: Gruidae)". Auk. 127 (2): 440-452. doi:10.1525/auk. ...
It was found recently that the pollen of conifers transfers the mitochondrial organelles to the embryo, a sort of meiotic drive ... but recent research into DNA sequences suggests that this interpretation leaves the Pinales without Taxales as paraphyletic, ...
Complete mitochondrial DNA of the hagfish, Eptatretus burgeri: the comparative analysis of mitochondrial DNA sequences strongly ... 28S and 18S ribosomal DNA sequences support the monophyly of lampreys and hagfishes. Molecular Biology and Evolution 15 (12): ...
A study of the maternal mitochondrial DNA of the black-backed jackal could find no evidence of genotypes from the most likely ... "Large sequence divergence among mitochondrial DNA genotypes within populations of eastern African black-backed jackals" (PDF). ... analysis of control region haplotypes of the mitochondrial DNA and sex chromosomes from Mexican wolves, a critically endangered ... However, DNA study shows that "the dingo originates from domesticated dogs, originally from East Asia"[16] (which reverted to ...
New World nine-primaried oscine relationships: Constructing a mitochondrial DNA framework. Auk 117:321-336. ... "Mitochondrial DNA Phylogenetic Definition of a Group of 'Arid-Zone' Carduelini Finches" (PDF). Open Ornithology Journal 1: 1-7 ... A mitochondrial cytochrome b phylogeny of cardueline finches. Journal für Ornithologie, 135: 31. ...
DNA binding. • sequence-specific DNA binding. • transcription factor activity, sequence-specific DNA binding. • ATPase binding ... mitochondrial outer membrane. • mitochondrion. • cell nucleus. • cytosol. Biological process. • regulation of transcription, ... DNA-templated. • cell-cell signaling. • negative regulation of gene expression. • transcription, DNA-templated. • transcription ... RNA polymerase II core promoter proximal region sequence-specific DNA binding. • steroid hormone receptor activity. • steroid ...
"Sister group relationship of turtles to the bird-crocodilian clade revealed by nuclear DNA-coded proteins". Molecular Biology ... "Complete mitochondrial genome suggests diapsid affinities of turtles". Proceedings of the National Academy of Sciences USA. 95 ...
Over 60 million Brazilians possess at least one Native South American ancestor, according to a recent mitochondrial DNA study.[ ... According to a DNA study from 2010, "a new portrayal of each ethnicity contribution to the DNA of Brazilians, obtained with ... "DNA de brasileiro é 80% europeu, indica estudo". Folha.uol.com.br. Retrieved 30 August 2017.. ... Similar DNA tests showed that people self-classified as mulatto or white and Black mix, span from 62% to 83% European (mostly ...
mitochondrial inner membrane. • cytoplasmic vesicle. • cytoplasm. • plasma membrane. • cell cortex. • integral component of ... cellular response to DNA damage stimulus. • heart looping. • blood vessel development. • membrane protein ectodomain ... mitochondrial transport. • post-embryonic development. • positive regulation of dendritic spine development. • ... positive regulation of transcription, DNA-templated. • heart development. • negative regulation of axonogenesis. • embryonic ...
DNA repair. • response to X-ray. • response to drug. • DNA unwinding involved in DNA replication. • cellular response to ... mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • condensed chromosome. • ... DNA binding. • DNA-dependent ATPase activity. • recombinase activity. • chromatin binding. • DNA polymerase binding. • protein ... DNA synthesis involved in DNA repair. • interstrand cross-link repair. • response to glucoside. • DNA recombinase assembly. • ...
... spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in ... ACSM2B: encoding enzyme Acyl-coenzyme A synthetase ACSM2B, mitochondrial. *ACSM3: encoding enzyme Acyl-coenzyme A synthetase ... PDF: encoding enzyme Peptide deformylase, mitochondrial. *PDPR: encoding protein Pyruvate dehydrogenase phosphatase regulatory ...
... inferred from mitochondrial and nuclear DNA sequences". Systematic Biology. 55 (3): 454-470. doi:10.1080/10635150600697390. ...
Mitochondrial DNA comparison suggests the ancestors of modern rhinos split from the ancestors of Equidae around 50 million ... "The Complete Mitochondrial DNA Sequence of the Greater Indian Rhinoceros, Rhinoceros unicornis, and the Phylogenetic ... based on mitochondrial cytochrome b and 12s rRNA genes". Molecular Phylogenetics and Evolution. 19 (1): 34-44. doi:10.1006/mpev ...
... and other Accipitridae based on nuclear and mitochondrial DNA" (PDF). Molecular Phylogenetics and Evolution. 37 (2): 327-346. ... 2013). "DNA barcoding and evolutionary relationships in Accipiter Brisson, 1760 (Aves, Falconiformes: Accipitridae) with a ... and classification of the Accipitridae based on DNA sequences of the RAG-1 exon". Journal of Avian Biology. 38 (5): 587-602. ...
... and mitochondrial DNA sequence elements from cultured mouse and human fibroblasts". DNA Cell Biol. 20 (9): 531-54. doi:10.1089/ ...
An ancient DNA study published in 2015 characterized the rapidly evolving mitochondrial control region of one of these ... Studies of microsatellite and mitochondrial DNA in white-tailed eagles from north-central Europe have shown that the recovering ... A recent genetic study of mitochondrial DNA[25] is consistent with this idea. Greenlandic white-tailed eagles (proposed as H. a ... allozymes and mitochondrial DNA sequences. Journal of Zoological Systematics and Evolutionary Research, 34(2), 103-112. ...
... clues from interpolation analyses and high-resolution characterization of mitochondrial DNA lineages". BMC Evolutionary Biology ... In July 2012, Ancestry.com reported on historic and DNA research by its staff that discovered that Obama is likely a descendant ...
Bogenhagen DF, Rousseau D, Burke S (2008). "The layered structure of human mitochondrial DNA nucleoids". J. Biol. Chem. 283 (6 ... mitochondrial inner membrane. • mitochondrial envelope. • mitochondrial nucleoid. • extracellular exosome. • mitochondrion. ... This gene encodes the beta subunit of the mitochondrial trifunctional protein, a catalyst of mitochondrial beta-oxidation of ... Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, ...
The MT-TI gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 69 base pairs.[2] The structure of ... Mitochondrially encoded tRNA isoleucine also known as MT-TI is a transfer RNA which in humans is encoded by the mitochondrial ... July 1992). "Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy". Biochemical and Biophysical Research Communications. ... December 1990). "Mitochondrial mutation in fatal infantile cardiomyopathy". Lancet. 336 (8728): 1452. doi:10.1016/0140-6736(90) ...
"Species-specific segregation of gender-associated mitochondrial DNA types in an area where two mussel species (Mytilus edulis ...
In 2016, a study of mitochondrial DNA sequences of both modern and ancient wolves generated a phylogenetic tree which indicated ... In tests performed on a sample from a taxidermied carcass of what was initially labelled as a chupacabra, mitochondrial DNA ... Wolf Phylogeography and Demographic History Based on the Mitochondrial Control Region". Frontiers in Ecology and Evolution. 4. ... "DNA results show chupacabra animal is mixture of coyote, Mexican wolf". Victoria Advocate ...
Mitochondrial DNA[edit]. In 2001, a method was devised by Jeffrey Wells and Felix Sperling to use mitochondrial DNA to ... Wells, D. and Sperling Felix A. H. "DNA-based identification of forensically important Chrysomyinae (Diptera: Calliphoridae)" ... One benefit of this would be that it is like other DNA-based techniques so most labs would be equipped to conduct similar ... "Application of DNA-based methods in forensic entomology" (PDF). Annual Review of Entomology. 53: 103-120. doi:10.1146/annurev. ...
radiology - randomized trial - rebound - receptor (immunology) - recombinant - recombinant DNA - recombinant DNA technology - ... mitochondrial toxicity - molecule - molluscum contagiosum - monocyte - mononeuritis multiplex (MM) - monovalent vaccine - ... DNA - Domain (biology) - dose-ranging study - dose-response relationship - double-blind study - drug resistance - drug-drug ... DNA) - Department of Health and Human Services (DHHS/HHS or DHHS) - desensitization - diabetes mellitus (DM) - diagnosis - ...
Innovative technologies shed light on mitochondrial DNA replication *Exploring the biological effects of mitochondrial peptides ... This schematic diagram of the Mitochondrial DNA Replication Group intermediate shows the critical proteins required for DNA ... or depletion of the mitochondrial DNA (mtDNA). The mutation rate of the mitochondrial genome is 10-20 times greater than of ... The primary goal of the Mitochondrial DNA Replication Group is to understand the role of the replication apparatus in the ...
... is DNA contained in structures called mitochondria rather than the nucleus. Learn about genetic conditions related to mtDNA ... This genetic material is known as mitochondrial DNA or mtDNA. In humans, mitochondrial DNA spans about 16,500 DNA building ... Mitochondrial complex III deficiency. Mutations in the MT-CYB gene found in mitochondrial DNA can cause mitochondrial complex ... medlineplus.gov/genetics/chromosome/mitochondrial-dna/ Mitochondrial DNA. ...
It emerges that the synthesis and oxidation of mitochondrial DNA drives this activation step. ... It emerges that the synthesis and oxidation of mitochondrial DNA drives this activation step. ... It emerges that the synthesis and oxidation of mitochondrial DNA drives this activation step. Activation of the inflammasome ... which are required to oxidize mitochondrial DNA - and the release of oxidized mitochondrial DNA, which binds to the ...
There are two places in a cell where DNA is stored: the vast majority of it is in chromosomes in the nucleus; but a small ... The nuclear DNA and the mitochondrial DNA are independent of each other. The mitochondria are believed to have originally been ... Because mitochondrial DNA, or mtDNA, is inherited through the maternal line, it is never diluted by sexual recombination, and ... because African DNA is by far the most diverse): this common ancestor is called Mitochondrial Eve (another existing node Im ...
The book is about mitochondrial DNA ( mtDNA) biology and the roles of mtDNA in the pathogenesis, diagnosis, prevention and ... The book describes molecular principles and mechanisms by which mitochondrial DNA (mtDNA) can drive the occurrence of diseases ... It also demonstrates the importance of basic mitochondrial genetics and the relationship between mutations and disease ... mitochondrial ribosome, autophagy pathways, or ROS-dependent signaling in the pathogenesis, diagnosis, prevention and treatment ...
... to an elevated rate of mutation in mitochondrial DNA. Because of the high rate of evolution, mitochondrial DNA is likely to be ... Mitochondrial DNA was purified from four species of higher primates (Guinea baboon, rhesus macaque, guenon, and human) and ... Rapid evolution of animal mitochondrial DNA. W M Brown, M George Jr, and A C Wilson ... A cleavage map was constructed for the mitochondrial DNA of each species. Comparison of the maps, aligned with respect to the ...
Formaldehyde Damages DNA and Proteins * Mitochondrial DNA Shows Resistance to Mutagen Exposure Mitochondrial DNA Shows ... P did cause DNA damage in the mitochondria even though they detected no changes in the sequence of mitochondrial DNA in exposed ... To study mitochondrial DNA mutations, the researchers examined the effects of benzo[a]pyrene (B[a]P), a combustion byproduct ... Mitochondrial DNA exhibits resistance to induced point and deletion mutations. Nucleic Acids Res 44(18):8513-8524. ...
This article describes the transcription of the 13 genes encoded within mitochondrial DNA. This process is essential for the ... These are the DNA-binding protein mitochondrial transcription factor A (TFAM) and mitochondrial transcription factor B2 (TFB2M ... Mitochondrial transcription is a three-step process as with genomic DNA transcription: initiation, elongation, and termination. ... Of these, 13 subunits are encoded by mitochondrial genes (mtDNA). The mitochondrial genome is therefore vital for the ...
... Dr LM Coetzee Hematologie gnhmlmc at med.uovs.ac.za Mon Nov 6 04:22:27 EST 2000 *Previous message ... mitochondrial DNA isolation I am looking for a method for the isolation of mtDNA from white blood cells or platelets. Can ...
2016) Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature 540:270-275. ... 1987) Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos. Dev Biol 123: ... 2003) Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol 54:524-526. ... Unlike nuclear DNA in which there are only two copies of each gene per cell, thousands of copies of mitochondrial DNA (mtDNA) ...
This article provides a step by step account of mitochondrial DNA (mtDNA) translation and the molecular machinery involved in ... The mitochondrial DNA translation machinery resembles that of prokaryotes. *Components of the mitochondrial Translation ... The mitochondrial DNA translation machinery resembles that of prokaryotes. Overall, the eukaryotic mitochondrial translation ... A few, however, are encoded by the mitochondrial DNA (mtDNA) and are produced by the mitochondrial translation machinery. ...
We hypothesized that breastfeeding has long-term consequences on the energy metabolism exemplified by mitochondrial DNA (mtDNA ... Measurement of mitochondrial DNA content. Mitochondrial DNA content was measured as described elsewhere27. Briefly, DNA was ... Malik, A. N. & Czajka, A. Is mitochondrial DNA content a potential biomarker of mitochondrial dysfunction? Mitochondrion 13, ... Every cell contains various mitochondria, each with multiple copies of mitochondrial DNA (mtDNA)9. Decreased mitochondrial ...
... related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and ... known as mitochondrial DNA depletion). Mitochondrial DNA depletion impairs mitochondrial function in many of the bodys cells ... Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these ... MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat ...
... resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA ... Synonyms: OXPHOS disease due to nuclear DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies ... mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. ... genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, ...
Children with autism spectrum disorder have a higher number of mutations in their mitochondrial DNA than their family members, ... While DNA is found in the nucleus of the cell, mitochondria also contain DNA, although this DNA is much smaller than the one ... As mitochondrial DNA is inherited exclusively from the mother, researchers also note that these mutations can be inherited from ... "New study links autism to mutations in mitochondrial DNA." Medical News Today. MediLexicon, Intl., 31 Oct. 2016. Web.. 18 Sep. ...
Nuclear DNA was first edited in the early 1970s, chloroplast DNA was first edited in 1988, and animal mitochondrial DNA was ... However, no tool previously successfully edited plant mitochondrial DNA. Researchers used their technique to create four new ... Researchers in Japan have edited plant mitochondrial DNA for the first time, which could lead to a more secure food supply. ... Nuclear DNA was first edited in the early 1970s, chloroplast DNA was first edited in 1988, and animal mitochondrial DNA was ...
Preventing transmission of maternally inherited mitochondrial DNA diseases BMJ 2009; 338 :b94 doi:10.1136/bmj.b94 ... Families who have lost a child from a mitochondrial DNA disease (fig 1⇓) often seek genetic counselling before trying to ... It is derived from 22 years of research and 11 years of genetic counselling in mitochondrial DNA diseases. ... Maternally inherited mutations of mitochondrial DNA can be asymptomatic or cause illnesses such as developmental regression, ...
"Baylor study reveals role for oxidized mitochondrial DNA in lupus ." Medical News Today. MediLexicon, Intl., 19 Apr. 2016. Web. ... 2016, April 19). "Baylor study reveals role for oxidized mitochondrial DNA in lupus ." Medical News Today. Retrieved from. ... Oxidized mitochondrial DNA released from neutrophils therefore induces an immune response and may contribute to SLE ... "Therapeutic efforts to enhance pathways involved in oxidized mitochondrial DNA degradation should be explored in human SLE, a ...
NIST researchers are working to validate the mitochondrial DNA sequence measurement technology and increase the speed of the ... Mutations within the DNA of mitochondria -- a circular strand containing more than 16,000 nucleotide base pairs -- have been ... and more efficient methods for sequencing the DNA from mitochondria, the tiny energy factories of cells. ... Once the overall process is perfected, NIST scientists will use it to sequence mitochondrial DNA collected by Johns Hopkins ...
Haplogroup Heteroplasmy Human mitochondrial DNA haplogroup Human mitochondrial genetics Mitochondrial disease Mitochondrial DNA ... Mitochondrial DNA is replicated by the DNA polymerase gamma complex which is composed of a 140 kDa catalytic DNA polymerase ... Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and ... Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert ...
Premature ageing in mice expressing defective mitochondrial DNA polymerase.. Trifunovic A1, Wredenberg A, Falkenberg M, ... Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys ... DNA Polymerase gamma. *DNA, Mitochondrial/genetics. *DNA-Directed DNA Polymerase/genetics*. *DNA-Directed DNA Polymerase/ ...
A central part of the protective mechanism is an unusual enzyme, PrimPol, which can re-initiate mitochondrial DNA replication ... Researchers at the University of Eastern Finland have discovered a novel mechanism safeguarding mitochondrial DNA. ... Besides nuclear genomic DNA, mitochondria also contain their own small genomes, mitochondrial DNA (mtDNA), which encodes for ... A central part of the protective mechanism is an unusual enzyme, PrimPol, which can re-initiate mitochondrial DNA replication ...
Nucleoside reverse transcriptase inhibitors, mitochondrial DNA and AIDS therapy.. Lewis W1. ... Further studies will help us unravel mechanisms of NRTI MT and the natural history of mitochondrial biogenesis in humans and ...
... read more about nuclear DNA and mtDNA. Youll learn how theyre used in the field of forensics, and how science helps ... If youre interested in how mitochondrial DNA is used in forensics, ... Nuclear DNA & mtDNA. Nuclear DNA is relatively longer than mitochondrial DNA reaching up to 3 billion base pairs compared to ... How is Mitochondrial DNA (mtDNA) Used in Forensics. written by: KM•edited by: Leigh A. Zaykoski•updated: 6/27/2011 ...
... Int J Cardiol. 2006 Sep 20;112(2):202-6. doi ... A total of 130 Spanish patients and 300 healthy controls were genotyped for eight mitochondrial single nucleotide polymorphisms ... Our data suggest that the genetic variation at the mitochondrial genome could significantly contribute to the risk for HCM. ... We compared the frequencies of these polymorphisms and mitochondrial haplogroups between patients and controls. Haplogroup T, ...
By sequencing and comparing mitochondrial genomes from killer whales around the world, researchers have garnered genetic ... Past studies of specific mitochondrial DNA loci have found relatively little mtDNA diversity, the researchers explained, and ... In so doing, they identified dozens of mitochondrial haplotypes that point to the existence of at least three killer whale ... They also sequenced five partial mitochondrial genomes and mtDNA for three outgroup species: a false killer whale, a long- ...
Do Somatic Mitochondrial DNA Mutations Contribute to Parkinsons Disease?. Joanne Clark, Ying Dai, and David K. Simon ... Joanne Clark, Ying Dai, and David K. Simon, "Do Somatic Mitochondrial DNA Mutations Contribute to Parkinsons Disease?," ...
... , autosomal recessive. Mitochondrial DNA depletion syndrome 12B ( ... An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic ...
Restriction analysis of mitochondrial DNA (mtDNA) of 3065 humans from 62 geographic samples identified 149 haplotypes and 81 ... The structure of human mitochondrial DNA variation J Mol Evol. 1991 Dec;33(6):543-55. doi: 10.1007/BF02102807. ... Restriction analysis of mitochondrial DNA (mtDNA) of 3065 humans from 62 geographic samples identified 149 haplotypes and 81 ... Human mtDNA also exhibits more interpopulation heterogeneity (GST = 0.351 +/- 0.025) than does nuclear DNA (GST = 0.12). ...
Mitochondrial DNA accepts original high-quality reports based on mapping, sequencing and analysis of mitochondrial DNA and RNA ... informahealthcare.com/toc/mdn/22/S1 Mitochondrial DNA homepage of Mitochondrial DNA. ... Mitochondrial DNA has published so far two special free-access issues on DNA Barcoding: Mexican Barcode of Life (MexBOL) in ... Descriptive papers on DNA sequences from mitochondrial genomes, and also analytical papers in the areas of population genetics ...
  • This genetic material is known as mitochondrial DNA or mtDNA. (medlineplus.gov)
  • Because mitochondrial DNA, or mtDNA , is inherit ed through the maternal line, it is never diluted by sexual recombination , and if it mutates at a fixed rate, that may be used as a molecular clock to estimate actual ages of divergence of the lineage s obtained. (everything2.com)
  • The mtDNA evidence suggests the common maternal ancestor of all modern humans lived between 150 000 and 250 000 years ago, in Africa (because African DNA is by far the most diverse): this common ancestor is called Mitochondrial Eve (another existing node I'm not going to duplicate here). (everything2.com)
  • The book describes molecular principles and mechanisms by which mitochondrial DNA (mtDNA) can drive the occurrence of diseases and the latest understanding of mtDNA biology. (springer.com)
  • Authors made a great effort to overview roles of mtDNA signaling pathways, base excision repair, methylation, USP30-mediated regulation, mitochondrial ribosome, autophagy pathways, or ROS-dependent signaling in the pathogenesis, diagnosis, prevention and treatment of diseases. (springer.com)
  • Of these, 13 subunits are encoded by mitochondrial genes (mtDNA). (news-medical.net)
  • The recruitment of TFBM2 induces DNA unwinding at the promoter and enables initiating nucleotides to be incorporated into the mtDNA/TFAM/POLRMT/TFBM2 ternary complex, thus beginning RNA synthesis. (news-medical.net)
  • ageing at net.bio.net Subject: mitochondrial DNA isolation I am looking for a method for the isolation of mtDNA from white blood cells or platelets. (bio.net)
  • A few, however, are encoded by the mitochondrial DNA (mtDNA) and are produced by the mitochondrial translation machinery. (news-medical.net)
  • We hypothesized that breastfeeding has long-term consequences on the energy metabolism exemplified by mitochondrial DNA (mtDNA). (nature.com)
  • Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. (medlineplus.gov)
  • A dysfunctional or absent MPV17 protein leads to problems with the maintenance of mtDNA, which can cause a reduction in the amount of mtDNA (known as mitochondrial DNA depletion). (medlineplus.gov)
  • Since many neurodevelopmental disorders and related childhood disorders show abnormalities that converge upon mitochondrial dysfunction, and may have mtDNA defects as a common harbinger, future research is needed to elucidate the mitochondrial mechanisms underpinning to these diseases. (medicalnewstoday.com)
  • Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys and rodents. (nih.gov)
  • Besides nuclear genomic DNA, mitochondria also contain their own small genomes, mitochondrial DNA (mtDNA), which encodes for thirteen essential parts of the cellular respiration machinery. (eurekalert.org)
  • mtDNA is especially vulnerable to oxidative damage as it is located close to the free radical producing mitochondrial electron transport chain. (eurekalert.org)
  • Heart cells or cardiomyocytes are especially vulnerable to the loss of mitochondrial function, and enhanced protection of mtDNA could also shield diseased hearts," he continues. (eurekalert.org)
  • moreover, these mitochondrial DNA (mtDNA) can be copied up to ten times. (brighthub.com)
  • Nuclear DNA is relatively longer than mitochondrial DNA reaching up to 3 billion base pairs compared to the estimated 16,569 bases pairs of mtDNA. (brighthub.com)
  • This higher number of copy of mtDNA in a single cell makes it extremely useful for forensics experts to extract them and process them for mitochondrial DNA typing particularly in cases where there are limited resources and samples. (brighthub.com)
  • Aside from the number of mtDNA that can be extracted coming from small amount of samples, mitochondrial DNA proved very helpful in forensics because of its mode of inheritance. (brighthub.com)
  • With the use of mtDNA in analysis, it will not be able to distinguish and even identify evidences and materials that do not come from the same maternal lineage which nuclear DNA analysis can easily provide given the right amount and kind of samples. (brighthub.com)
  • The location of the mtDNA as well compared to that of the nuclear DNA has been an advantage for using mtDNA in forensics analysis. (brighthub.com)
  • Due to the heat and the humidity of the place, nuclear DNA samples proved challenging to isolate and be processed, hence mtDNA played a major role in identifying the victims. (brighthub.com)
  • Past studies of specific mitochondrial DNA loci have found relatively little mtDNA diversity, the researchers explained, and just over a dozen haplotypes. (genomeweb.com)
  • They also sequenced five partial mitochondrial genomes and mtDNA for three outgroup species: a false killer whale, a long-finned pilot whale, and a short-finned pilot whale. (genomeweb.com)
  • Restriction analysis of mitochondrial DNA (mtDNA) of 3065 humans from 62 geographic samples identified 149 haplotypes and 81 polymorphic sites. (nih.gov)
  • Human mtDNA also exhibits more interpopulation heterogeneity (GST = 0.351 +/- 0.025) than does nuclear DNA (GST = 0.12). (nih.gov)
  • Accumulation of mutations and single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) has been identified for their association with cancer risk and disease outcome in a variety of cancers. (springer.com)
  • Each cell's mitochondria also contain small pieces of DNA, called mitochondrial DNA (mtDNA). (nih.gov)
  • Defects in mtDNA cause several rare and deadly disorders, such as mitochondrial myopathies and Leigh's disease. (nih.gov)
  • Analysis of the infant monkeys' cells showed that they had mtDNA from 1 female and nuclear DNA from another. (nih.gov)
  • No mtDNA from the original egg-the source of the nuclear DNA-could be detected. (nih.gov)
  • Mitochondria are a main source of reactive oxygen species (ROS) and chemical sidereactions in healthy aerobic tissues and are the only known extranuclear cellular organelles in animal cells that contain their own DNA (mtDNA). (hindawi.com)
  • ROS can modify mtDNA directly at the sugar-phosphate backbone or at the bases, producing many different oxidatively modified purines and pyrimidines, as well as single and double strand breaks and DNA mutations. (hindawi.com)
  • In this scenario, natural selection tends to decrease the mitochondrial ROS generation, the oxidative damage to mtDNA, and the mitochondrial mutation rate in long-lived species, in agreement with the mitochondrial oxidative stress theory of aging. (hindawi.com)
  • ROS can modify mtDNA directly at the sugar-phosphate backbone or at the bases, producing many different oxidatively modified purines and pyrimidines, including the most commonly measured 8-oxo-7,8-dihydro-2′-deoxyguanosine (8-oxodG), as well as single and double strand breaks and DNA mutations [ 16 , 17 ] (Figure 1 ). (hindawi.com)
  • To test hypotheses of neutral evolution of mitochondrial DNA (mtDNA), nucleotide sequences were determined for 1515 base pairs of the NADH dehydrogenase subunit 5 (ND5) gene in the mitochondrial DNA of 29 lines of Drosophila melanogaster and 9 lines of its sibling species Drosophila simulans. (genetics.org)
  • The article begins, "Mitochondrial DNA (mtDNA) disease may be the poster child for highly targeted, 'personalized' medicine. (medindia.net)
  • Mitochondrial DNA ( mtDNA or mDNA ) is the DNA in mitochondria . (wikipedia.org)
  • Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, adenosine triphosphate (ATP). (wikipedia.org)
  • Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA being derived from the circular genomes of the bacteria that were engulfed by the early ancestors of today's eukaryotic cells. (wikipedia.org)
  • Recent analysis of a wide range of mtDNA genomes suggests that both these features may dictate mitochondrial gene retention. (wikipedia.org)
  • In many unicellular organisms (e.g., the ciliate Tetrahymena and the green alga Chlamydomonas reinhardtii), and in rare cases also in multicellular organisms (e.g. in some species of Cnidaria), the mtDNA is found as linearly organized DNA. (wikipedia.org)
  • Most of these linear mtDNAs possess telomerase-independent telomeres (i.e., the ends of the linear DNA) with different modes of replication, which have made them interesting objects of research because many of these unicellular organisms with linear mtDNA are known pathogens. (wikipedia.org)
  • Some plant species have enormous mitochondrial genomes, with Silene conica mtDNA containing as many as 11,300,000 base pairs. (wikipedia.org)
  • Mitochondrial DNA Isolation Kit ab65321 provides convenient tools for isolating mtDNA from a variety of cells and tissues in high yield and purity, without contaminations from genomic DNA. (abcam.com)
  • Mitochondrial DNA (mtDNA) has a very high mutation rate and the mutations on mtDNA appear to be related to certain diseases such as diabetes, Alzheimer's disease, and muscle disorders. (abcam.com)
  • mtDNA The order of nucleotides in a DNA or RNA molecule, or the order of amino acids in a protein molecule. (godandscience.org)
  • Coverage includes: Discovery and description of mitochondrial genome sequences Structure and function of mtDNA genes and genomic features Molecular evolution, phylogenetics, population genetics Model and non-model organisms Endangered species Neurodegenerative disorders Ageing Current technologies Bioinformatics Previously published under the title DNA Sequence (Vols 1-19.3), Mitochondrial DNA accepts original high-quality reports based on mapping, sequencing and analysis of mitochondrial DNA and RNA. (wikipedia.org)
  • A mitochondrial DNA test (mtDNA test) traces a person's matrilineal or mother-line ancestry using the DNA in his or her mitochondria . (isogg.org)
  • See also the animation on mitochondrial DNA on the Learn Genetics website which provides a good explanation of the inheritance of mtDNA. (isogg.org)
  • Many people are now choosing to have the full mitochondrial genome sequenced (scientifically called the mtDNA genome or mitogenome). (isogg.org)
  • Some companies and organisations, such as the Genographic Project , 23andMe and Living DNA , use microarray chips which provide a scan of selected SNPs from across the entire mtDNA genome. (isogg.org)
  • Family Tree DNA customers who have ordered a full mitochondrial sequence test from FTDNA can order a custom mtDNA report from ISOGG member Dr Ann Turner to help them understand their results. (isogg.org)
  • But using sequencing data from the mitochondrial genomes of members from three unrelated families, researchers have identified 17 individuals who inherited mtDNA from both parents. (the-scientist.com)
  • Taosheng Huang , a pediatrician and medical geneticist who heads the Mitochondrial Diseases Program at the Cincinnati Children's Hospital Medical Center, stumbled upon the first individual with mtDNA from both his parents by accident. (the-scientist.com)
  • Family members submitted samples for sequencing, and the mitochondrial genomes of the boy's siblings, parents, and grandparents revealed that both the patient's mother and maternal grandfather had a similar bi-parental inheritance pattern of their mtDNA. (the-scientist.com)
  • Some children who had mixed mitochondrial genomes appeared to have inherited the mix from their mothers, having none of their father's mtDNA. (the-scientist.com)
  • In the men with mixed genomes the ability to pass on their mtDNA appeared to be a dominant trait, as they could give their mitochondrial genes to their children. (the-scientist.com)
  • Aside from the initially identified patients who had signs of a mitochondrial disease, the family members analyzed by the researchers who harbored a mix of maternally and paternally inherited mtDNA were seemingly healthy. (the-scientist.com)
  • Can I prove this and find out more through a mitochondrial DNA (mtDNA) test? (blogarama.com)
  • Both males and females inherit mitochondrial DNA from their mother, but only females can pass the mtDNA to their children. (blogarama.com)
  • So, many years ago I ordered mitochondrial DNA (mtDNA) tests from as many companies as were offering them at the time. (blogarama.com)
  • The ensuing state of oxidative stress results in damage to ETC components and mtDNA (mitochondrial DNA), thus increasing further the production of ROS. (portlandpress.com)
  • Mutations within mitochondrial DNA (mtDNA) and the nuclear genes involved in the maintenance of mitochondrial DNA have been linked to a wide range of human diseases, including several of the most common diseases of aging. (springer.com)
  • In Mitochondrial DNA: Methods and Protocols internationally recognized authorities describe in great detail the methods they have perfected to analyze mtDNA and the proteins involved in its maintenance. (springer.com)
  • The analytical techniques cover the purification of mtDNA from a variety of sources and the analysis of DNA for both deletions, point mutations, and damage, for replication intermediates, and for following the fate of mtDNA outside of the mitochondria. (springer.com)
  • Comprehensive and timely, Mitochondrial DNA: Methods and Protocols offers both basic and clinical researchers proven cutting-edge methods for analyzing the role mtDNA plays in the aging process, apoptosis, and possibly some cancers, and for investigating the cause of mitochondrial dysfunction and disease. (springer.com)
  • This study examined the concentration of cell-free mitochondrial DNA (cf-mtDNA) in porcine follicular fluid (FF) and explored whether the cfDNA level in the culture medium could reflect mitochondrial dysfunction in cumulus cell-oocyte complexes (COCs). (go.jp)
  • cfDNA concentration in FF significantly correlated with the mtDNA copy number in FF but not with the number of one-copy gene (nuclear DNA) in FF. (go.jp)
  • When the COCs were treated with the mitochondrial uncoupler, namely carbonyl cyanide m-chlorophenyl hydrazone (CCCP), for 2 h and incubated for 42 h, subsequent real-time PCR detected significantly higher amount of cf-mtDNA, compared to nuclear cfDNA, in the spent culture medium. (go.jp)
  • Thus, cf-mtDNA was present in FF in a wide range of length, and mitochondrial dysfunction in COCs increased the active secretion of cf-mtDNA in the cultural milieu. (go.jp)
  • Mitochondrial DNA (mtDNA) is passed from mother to offspring, with sperm mitochondria contributing no DNA to the embryo. (natureasia.com)
  • Mutations in mtDNA are linked to a range of diseases including type 2 diabetes, mitochondrial myopathies and neuropathies. (natureasia.com)
  • Over the last two decades, the mutation of mitochondrial DNA (mtDNA) has emerged as a major cause of inherited human disease. (curefa.org)
  • VDAC oligomers form mitochondrial pores to release mtDNA fragments and promote lupus-like disease. (harvard.edu)
  • Indirect evidence suggests a role for mitochondrial DNA (mtDNA) mutations. (labome.org)
  • Brain levels of 8-hydroxy-2?deoxyguanosine (OH8dG), a marker of oxidative DNA damage associated with point mutations, are 16-fold higher in mtDNA than in nuclear DNA, increase with aging, and increase further in PD. (labome.org)
  • Maternally inherited mitochondrial (mt)DNA mutations can cause fatal or severely debilitating syndromes in children, with disease severity dependent on the specific gene mutation and the ratio of mutant to wild-type mtDNA (heteroplasmy) in each cell and tissue. (unboundmedicine.com)
  • Mitochondrial replacement therapies or techniques (MRT) circumventing mother-to-child mtDNA disease transmission involve replacement of oocyte maternal mtDNA. (unboundmedicine.com)
  • Mutations in mitochondrial DNA (mtDNA) accumulate during aging, but their significance to longevity and age-associated disease has been uncertain. (aacrjournals.org)
  • Because of the high gene density of the mitochondrial genome, mutations in mitochondrial DNA (mtDNA) have a high likelihood of affecting the expression or coding sequence of mitochondrial genes. (aacrjournals.org)
  • Point mutations and deletions in mtDNA accumulate with age in a wide variety of tissues in multiple species ( 1 - 7 ), and there is evidence to suggest that there can be functional consequences with respect to mitochondrial bioenergetics. (aacrjournals.org)
  • The free radical theory of aging postulates that reactive oxygen species (ROS) generated during mitochondrial respiration can lead to mtDNA mutations, among other targets, and impairment of normal electron transport. (aacrjournals.org)
  • The proposal that all mitochondrial DNA (mtDNA) types in contemporary humans stem from a common ancestor present in an African population some 200,000 years ago has attracted much attention. (sciencemag.org)
  • Mitochondrial DNA (mtDNA) of higher animals is a circular molecule of 16,569 bases . (tripod.com)
  • The mtDNA has no repetitive DNA, spacers, or introns. (tripod.com)
  • Unlike nuclear DNA which gets mixed around each generation (this is each meiosis), the only alteration to mtDNA is an accidental change caused by mutation, copying errors, or other accidents, i.e., it does not recombine. (tripod.com)
  • The rate of base substitution in mtDNA is much higher than nuclear DNA. (tripod.com)
  • Genetic studies of the distribution of mitochondrial DNA (mtDNA) haplogroups in human populations residing within the Carpathian Mountain range have been scarce. (jhu.edu)
  • The human mitochondrial DNA (mtDNA) is a double-stranded, circular molecule of 16 569 bp and contains 37 genes coding for two rRNAs, 22 tRNAs and 13 polypeptides. (kenyon.edu)
  • DNA found within the mitochondrion is called mitochondrial DNA (mtDNA) to identify it from the DNA in the nucleus . (biology-online.org)
  • An increase in mitochondrial DNA (mtDNA) content and decline in mitochondrial function occurs with aging and in response to DNA-damaging agents, including tobacco smoke. (aacrjournals.org)
  • The decrease in mitochondrial function associated with age is also accompanied by rearrangements in mtDNA ( 8 - 11 ). (aacrjournals.org)
  • These and other DNA alterations are likely to be the result of the combined effects of oxidative damage and reduced efficiency of mtDNA repair systems with increasing age ( 2 - 4 ). (aacrjournals.org)
  • Age-related mitochondrial alterations also include an increase in mtDNA content ( 12 ). (aacrjournals.org)
  • This increase in mtDNA content is accompanied by mtDNA deletions, evidence of oxidative damage, and decreased transcription of mitochondrial-specific proteins in specific tissues ( 13 , 14 ). (aacrjournals.org)
  • Mitochondrial DNA (mtDNA) directs key metabolic functions in eukaryotic cells. (fightaging.org)
  • Despite the mutagenic mitochondrial environment naturally enhancing somatic mtDNA mutation rates, mtDNA remains grossly stable along generations of plant and animal species including man. (fightaging.org)
  • However, whether fluoride exposure can damage the mitochondrial DNA (mtDNA) of sperm is still unknown. (fluoridealert.org)
  • After exposure, sperm mtDNA copy number was measured by real-time PCR, mtDNA integrity by acridine orange (AO) staining, and nuclear DNA (nDNA) integrity through long PCR amplification, as well as MTCYB and MTATP6 mutations by PCR and direct sequencing. (fluoridealert.org)
  • In vitro biochemical experiments have demonstrated that the replicative mitochondrial DNA (mtDNA) polymerase gamma, Polg, is a sensitive target for inhibition by metabolically active forms of NRTIs, nucleotide reverse transcriptase inhibitors (NtRTIs). (frontiersin.org)
  • Further complicating NRTI off-target effects on mtDNA maintenance, two additional DNA polymerases, Pol beta and PrimPol, were recently reported to localize to mitochondria as well as the nucleus. (frontiersin.org)
  • Accompanying the above-mentioned topics, this review examines: (1) mtDNA maintenance in human health and disease, (2) reports of DNA polymerases theta and zeta (Rev3) localizing to mitochondria, and (3) additional drugs with off-target effects on mitochondrial function. (frontiersin.org)
  • Mitochondria are eukaryotic organelles that share bacterial features such as a double-membrane structure and a circular multi-copied genome or mitochondrial DNA (mtDNA). (frontiersin.org)
  • N2 - Yeast mitochondrial DNA (mtDNA) is compacted into nucleoprotein structures called mitochondrial nucleoids (mt-nucleoids). (muni.cz)
  • Mitochondrial DNA copy number (mtDNA-CN) is a promising biomarker of mitochondrial dysfunction that has the potential to become widely available in clinical practice. (fightaging.org)
  • As studies increase in power and functional assessment of mechanisms underlying the effect of mtDNA on mitochondrial function and gene expression improve, our understanding of variation in mtDNA-CN as cause or consequence of disease development will rapidly improve. (fightaging.org)
  • We have undertaken genomic transplantation studies involving the transfer of mitochondrial DNA (mtDNA) from PD patients with a complex-I defect to a novel nuclear background. (portlandpress.com)
  • Identification of mitochondrial DNA (mtDNA) variations in the inherited cataract patients from south India. (molvis.org)
  • Samples of mtDNA were amplified using 24 pairs of overlapping primers to analyze the entire mitochondrial genome to screen for variations and analyzed for both coding and non-coding regions. (molvis.org)
  • Perhaps the best known and most long-standing hypothesis to explain ageing is the free radical theory that proposes a central role for the mitochondrion as the principal source of intracellular reactive oxygen species (ROS) leading to mitochondrial DNA (mtDNA) mutations. (bmj.com)
  • 4 , 5 Somatic (acquired) mtDNA mutations and their association with the decline in mitochondrial function during ageing are well described, but these observations do not necessarily imply a causal relationship between mitochondrial dysfunction and human ageing. (bmj.com)
  • Latorre-Pellicer and coauthors showed recently that transferring mtDNA from a mouse strain to the nuclear DNA (nDNA) background of another strain results in huge differences in insulin signalling, obesity and longevity throughout the life of the mouse. (bmj.com)
  • Mitochondria contain their own DNA (mtDNA) with genomic variants that have different physiological and pathological characteristics, including susceptibility to neurodegeneration. (soton.ac.uk)
  • In order to further elucidate genetic relationships among arctic D. pulex clones, mitochondrial DNA (mtDNA) variation was examined in 31 populations from two Canadian high-arctic sites. (wiley.com)
  • In this study, levels of biomarkers of mitochondrial damage (glutamate dehydrogenase [GDH] and mitochondrial DNA [mtDNA]) and nuclear DNA fragments were measured in plasma from APAP-overdose patients. (jci.org)
  • Peak GDH activity and mtDNA concentration were increased in plasma from patients with abnormal LT. Peak nuclear DNA fragmentation in the abnormal LT cohort was also increased over that of controls. (jci.org)
  • Defects of mitochondrial DNA (mtDNA) are an important cause of genetic disease in humans. (bmj.com)
  • Single mitochondrial DNA (mtDNA) deletions are an important cause of mitochondrial disease. (bmj.com)
  • Identified variants were compared to published mtDNA variants [MITOMAP.org: A Human Mitochondrial Genome Database, updated Nov 6, 2014] and between the case and control groups. (arvojournals.org)
  • A new paper documents three unrelated families where paternal mitochondrial DNA (mtDNA) is present in offspring. (ivf.net)
  • Lead author Professor Taosheng Huang, a paediatrician and geneticist at Cincinnati Children's Hospital Medical Centre, was surprised when test results on a four-year-old patient with suspected mitochondrial disease revealed that the boy carried two different sets of mtDNA. (ivf.net)
  • Examining more members of the family, four were discovered to have directly inherited mitochondrial DNA from their fathers, and others had inherited mixed mitochondria from their mothers - including mtDNA from a grandfather or great-grandfather. (ivf.net)
  • Here, we report oxidative mitochondrial DNA (mtDNA) damage and accumulation of mtDNA with a 4,834-bp deletion in kidney of streptozotocin-induced diabetic rats. (diabetesjournals.org)
  • At 8 weeks after the onset of diabetes, levels of 8-hydroxy-2′-deoxyguanosine (8-OHdG), which is a marker of oxidative DNA damage, were significantly increased in mtDNA from kidney of diabetic rats but not in nuclear DNA, suggesting the predominant damage of mtDNA. (diabetesjournals.org)
  • Among the oxidative damages, base modifications, such as oxidation of deoxyguanosine to 8-hydroxy-2′-deoxyguanosine (8-OHdG) and subsequent mutations of mitochondrial DNA (mtDNA), have received increasing attention in recent years. (diabetesjournals.org)
  • It is widely accepted that mtDNA is 10-20 times more vulnerable to oxidative damage and subsequent mutations than nuclear DNA ( 15 - 17 ). (diabetesjournals.org)
  • Many nucleoside analogue antiretroviral drugs (NRTIs) impair mitochondrial DNA (mtDNA) replication leading to reversible mtDNA depletion. (bmj.com)
  • The meeting was the third ENMC workshop devoted to disorders of mitochondrial DNA (mtDNA) maintenance. (enmc.org)
  • Mitochondria contain their own "gene material" (DNA), which is called "mitochondrial DNA" abbreviated as mtDNA. (enmc.org)
  • An important group of mitochondrial diseases, called "mtDNA maintenance disorders", is caused by changes ("mutations") in genes that encode proteins needed to replicate and maintain mtDNA, which results in mtDNA damage. (enmc.org)
  • Because many important proteins and other elements required for the correct mitochondrial function are manufactured based upon blueprints contained in mtDNA, the defective maintenance of this molecule results in mitochondrial dysfunction associated with many clinical problems that severely affect patients. (enmc.org)
  • Twenty-three physicians and basic scientists from fourteen countries gathered in Naarden, The Netherlands for the first ENMC workshop specifically focussing on a recently identified group of diseases due to disorders of mitochondrial DNA (mtDNA) synthesis. (enmc.org)
  • Mitochondria contain their own genetic code: mitochondrial DNA (mtDNA), which codes for 13 polypeptides and 24 RNA molecules that are essential building blocks for the machinery required to produce ATP. (enmc.org)
  • MtDNA is copied by DNA polymerase g (pol g), which is the only enzyme able to copy mtDNA within mitochondria. (enmc.org)
  • MtDNA variations and haplogroups could be one of the contributory factors to explain the remaining heterogeneity in FRDA, since mitochondrial oxidative stress is thought to be involved in the pathogenesis of FRDA. (curefa.org)
  • Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function. (medlineplus.gov)
  • The remaining genes provide instructions for making molecules called transfer RNA (tRNA) and ribosomal RNA (rRNA), which are chemical cousins of DNA. (medlineplus.gov)
  • Mutations in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which is a condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. (medlineplus.gov)
  • The mitochondrial genes associated with cytochrome c oxidase deficiency provide instructions for making proteins that are part of a large enzyme group (complex) called cytochrome c oxidase (also known as complex IV). (medlineplus.gov)
  • The mitochondrial genome is circular, contains far fewer genes, and is primarily inherited only from mothers. (eurekalert.org)
  • The plant mitochondrial genome is huge in comparison, the structure is much more complicated, the genes are sometimes duplicated, the gene expression mechanisms are not well-understood, and some mitochondria have no genomes at all - in our previous studies, we observed that they fuse with other mitochondria to exchange protein products and then separate again," said Arimura. (eurekalert.org)
  • In humans , mitochondrial DNA codes for 37 genes and with about 16,600 base pairs in a circle. (wikipedia.org)
  • In the cells of extant organisms, the vast majority of the proteins present in the mitochondria (numbering approximately 1500 different types in mammals) are coded for by nuclear DNA, but the genes for some, if not most, of them are thought to have originally been of bacterial origin, having since been transferred to the eukaryotic nucleus during evolution. (wikipedia.org)
  • The existence in some species of mitochondrion-derived organelles lacking a genome suggests that complete gene loss is possible, and transferring mitochondrial genes to the nucleus has several advantages. (wikipedia.org)
  • Moreover, nuclear DNA genes involved in aerobic respiration and in mitochondrial DNA replication and transcription were either absent or present only as pseudogenes. (wikipedia.org)
  • Growing evidence suggests that this cytosolic mitochondrial DNA induces various innate immune signaling pathways involving NLRP3, toll-like receptor 9, and stimulator of interferon genes (STING) signaling, which participate in triggering downstream cascade and stimulating to produce effector molecules. (mdpi.com)
  • The human mitochondrial DNA was sequenced and the different genes and their products-RNAs and tRNAs- are under constant study. (kenyon.edu)
  • [4] The sequence shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs. (kenyon.edu)
  • DNA from a nuclear gene, β-actin , and two mitochondrial genes, cytochrome c oxidase I and II ( Cox I and Cox II ), were quantified by real-time PCR. (aacrjournals.org)
  • This response is likely due to transcription of nuclear genome-encoded genes that are translocated into the mitochondria in response to altered mitochondrial membrane potential due to production of ROS ( 16 ). (aacrjournals.org)
  • In addition to the DNA locked up inside the nucleus, there is another source of genes inside cells. (brighthub.com)
  • Mitochondrial DNA also appears to be important for a healthy body as there are a number of genetic disorders associated with changes in mitochondrial genes. (brighthub.com)
  • As described in the mitochondrial free radical theory of aging , a small number of mitochondrial genes are known to be crucial to its operation as the cell's power plant. (fightaging.org)
  • You should also look into some of the early stage work presently taking place to either replace damaged mitochondrial DNA throughout the body, replace just the few relevant damaged genes , or make all such damage irrelevant and harmless . (fightaging.org)
  • Mitochondrial dysfunction also affects the expression of nuclear genes involved in metabolism , growth, differentiation , and apoptosis . (fightaging.org)
  • But like the other DNA in the cell nucleus, scientists lacked the needed research tools throughout most of the 20th century to systematically study the chemical composition of the mitochondrial genome, or complete set of genes, and its association to human disease. (bio-medicine.org)
  • The genome consisted of 16,568 base pair, or units, of DNA and encoded 37 contiguous genes. (bio-medicine.org)
  • DNA sequence analysis of inherited cataract families showed 72 nucleotide variations, of which 15 were observed in the major non-coding D-loop region, 3 in the tRNA genes, 5 in the rRNA genes, and 49 in the protein coding region. (molvis.org)
  • We still have a big risk now because there are so few plant mitochondrial genomes used in the world. (eurekalert.org)
  • Plant mitochondrial genomes are a different story. (eurekalert.org)
  • An international research team including researchers from Roche's 454 Life Sciences and Roche Applied Sciences, used highly parallel pyrosequencing to assess the complete mitochondrial genomes of nearly 150 killer whales from the North Atlantic, North Pacific, and southern oceans. (genomeweb.com)
  • To test the taxonomic and evolutionary utility of high-throughput mitogenomics, the team sequenced the 16,390 or so base pairs of mitochondrial genomes from 143 killer whales using highly-parallel pyrosequencing with Roche 454 GS FLX and Titanium platforms. (genomeweb.com)
  • Across all organisms, there are six main genome types found in mitochondrial genomes, classified by their structure (e.g. circular versus linear), size, presence of introns or plasmid like structures, and whether the genetic material is a singular molecule or collection of homogeneous or heterogeneous molecules. (wikipedia.org)
  • Protists contain the most diverse mitochondrial genomes, with five different types found in this kingdom. (wikipedia.org)
  • Descriptive papers on DNA sequences from mitochondrial genomes, and also analytical papers in the areas of population genetics, medical genetics, phylogenetics and human evolution that use mitochondrial DNA as a source of evidence for studies will be considered for publication. (wikipedia.org)
  • The results showed that the boy appeared to have two populations of mitochondrial genomes, both at a relatively high level. (the-scientist.com)
  • Hundreds of peer-reviewed articles accompanied these genomes, making mitochondrial DNAs (mtDNAs) the most sequenced and reported type of eukaryotic chromosome. (kenyon.edu)
  • Reduced mitochondrial function in the liver and brain lead to the liver failure and neurological dysfunction associated with MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome. (medlineplus.gov)
  • A few recent studies have been pointing to the connection between malfunctions in mitochondria and ASD, with mounting evidence that mitochondrial dysfunction is a biological subtype of ASD. (medicalnewstoday.com)
  • In mitochondria this partial loss, or deletion, causes dysfunction of the cellular respiration and is the driving pathological mechanism behind many mitochondrial diseases but also responsible for aging associated decline of cell function. (eurekalert.org)
  • We hypothesize that numerous acquired mutations, each individually present at a low mutational burden, could reach a sufficient aggregate burden to cause mitochondrial dysfunction. (labome.org)
  • Smoking has been shown to inhibit mitochondrial enzyme activity in platelets and cause mitochondrial dysfunction in alveolar macrophages ( 17 , 18 ). (aacrjournals.org)
  • While there is plenty of evidence for this to correlate with mitochondrial dysfunction , it doesn't necessarily directly reflect the most interesting mechanisms in mitochondrial aging, which are all forms of damage to mitochondria and mitochondrial DNA, rather than outright loss of mitochondria. (fightaging.org)
  • Mitochondrial dysfunction, generally characterized as a loss of efficiency in oxidative phosphorylation , is a hallmark of aging and a variety of chronic diseases. (fightaging.org)
  • Mitochondrial dysfunction results in inefficient cellular energy production and in increased levels of reactive oxygen species (ROS) which may damage lipids , proteins, and nucleic acids . (fightaging.org)
  • All these changes may explain the contribution of mitochondrial dysfunction to chronic and complex human diseases. (fightaging.org)
  • A major limitation to the routine evaluation of mitochondrial dysfunction in clinical practice is the lack of reliable measures of mitochondrial dysfunction available for clinical use. (fightaging.org)
  • Other measures of mitochondrial dysfunction, including cell culture-based methods are optimized in vitro , do not make use of pre-existing datasets, and cannot be scaled-up for widespread use. (fightaging.org)
  • A number of neurodegenerative diseases, in particular Parkinson's disease (PD), Huntington's disease (HD) and Friedreich's ataxia (FRDA), are associated with mitochondrial dysfunction. (portlandpress.com)
  • The mitochondrial iron accumulation, defective respiratory chain activity and aconitase dysfunction suggest that frataxin may be involved in mitochondrial iron regulation. (portlandpress.com)
  • this level of variation is enough to result in striking differences in the ROS generation, insulin signalling, obesity and cell-senescence-related parameters such as telomere shortening and mitochondrial dysfunction. (bmj.com)
  • In rodents, this leads to mitochondrial dysfunction and nuclear DNA fragmentation, resulting in necrotic cell death. (jci.org)
  • The polymerase POLRMT drives human mitochondrial transcription. (news-medical.net)
  • Mitochondrial DNA polymerase from Xenopus laevis oocytes. (nih.gov)
  • Premature ageing in mice expressing defective mitochondrial DNA polymerase. (nih.gov)
  • A total of 130 Spanish patients and 300 healthy controls were genotyped for eight mitochondrial single nucleotide polymorphisms (SNPs) through polymerase chain reaction followed by digestion with a restriction enzyme (PCR-RFLP). (nih.gov)
  • This kit provides DNA polymerase, buffers, and reagents for specific and uniform whole genome amplification from small samples of human and non-human mitochondrial DNA in total DNA samples. (qiagen.com)
  • Next, REPLI-g DNA Polymerase is added for the isothermal amplification reaction. (qiagen.com)
  • The method is based on multiple displacement amplification (MDA) technology, which carries out isothermal genome amplification utilizing a uniquely processive DNA polymerase. (qiagen.com)
  • Due to its high processivity and strand displacement activity, REPLI-g DNA Polymerase is capable of amplifying up to 100 kb without dissociating from the DNA template and minimizes unequal sequence and locus representation compared with PCR-based amplification methods. (qiagen.com)
  • Next, REPLI-g DNA Polymerase is added and the isothermal amplification reaction proceeds for 8 hours at 33°C. (qiagen.com)
  • Mitochondrial polymerase processivity subunit. (uniprot.org)
  • It regulates the polymerase and exonuclease activities promoting processive DNA synthesis. (uniprot.org)
  • Cell culture and biochemical experiments have also demonstrated that antiviral ribonucleoside drugs developed to treat hepatitis C infection act as off-target substrates for POLRMT, the mitochondrial RNA polymerase and primase. (frontiersin.org)
  • Defects in this mechanism may result in a litany of mitochondrial diseases. (news-medical.net)
  • A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. (ebi.ac.uk)
  • It is derived from 22 years of research and 11 years of genetic counselling in mitochondrial DNA diseases. (bmj.com)
  • In future, this technique might help to prevent transmission of maternally inherited mitochondrial DNA diseases, a range of potentially devastating illnesses caused by defects in mitochondrial function. (bmj.com)
  • Even though MRTs would not confer health benefits on patients who already have mitochondrial DNA diseases, many patients with a known risk for transmitting such a disease to their offspring are highly motivated to prevent that from occurring," said Marni J. Falk, M.D., director of the Mitochondrial-Genetics Clinic at The Children's Hospital of Philadelphia and first author of the article. (medindia.net)
  • The authors repeat the panel's stipulation that children conceived after MRT should be monitored long-term, "probably well into adulthood," much longer than is done after in vitro fertilization with pre-implantation diagnosis for diseases based in nuclear DNA. (medindia.net)
  • Mitochondrial DNA is responsible for inflammatory diseases after stress and cellular damage. (mdpi.com)
  • The findings, which highlight the need to develop new approaches to prevent the transmission of mitochondrial diseases, were published in The American Journal of Human Genetics. (scientistlive.com)
  • Mutations in mitochondrial DNA inherited from the mother may cause mitochondrial diseases that include muscle weakness, diabetes, stroke, heart failure, or epilepsy. (scientistlive.com)
  • In almost all mitochondrial diseases caused by mutant mitochondrial DNA, the patient's cells will contain a mixture of mutant and normal mitochondrial DNA. (scientistlive.com)
  • Previous estimates from epidemiological studies suggested that mitochondrial diseases affect as many as one person in 5,000. (scientistlive.com)
  • First author Nuno Raimundo, a postdoctoral associate in pathology, said, Mitochondrial diseases are complicated because different tissues are affected in often unpredictable ways. (medicalxpress.com)
  • The clinical symptoms of lipoatrophy resemble those of inherited mitochondrial diseases, which suggest that host mitochondrial genotype may play a role in susceptibility. (blogspot.com)
  • This workshop aimed to improve the clinical recognition, diagnosis, and treatment of these patients with focused discussion on treatments for two diseases: thymidine kinase 2 (TK2) deficiency and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (enmc.org)
  • Over the last five years, mutations in POLG have been identified in a wide range of mitochondrial diseases, including the severe childhood brain disorder (encephalopathy with epilepsy) associated with liver failure (Alpers-Huttenlocher syndrome), adult onset clumsiness, which eventually becomes severe (spino-cerebellar ataxia), and sensory nerve degeneration with or without epilepsy. (enmc.org)
  • Nevertheless it does mutate like any other DNA, and sequence s can be compared to determine parsimonious trees of presumed descent . (everything2.com)
  • NIST researchers are working to validate the mitochondrial DNA sequence measurement technology and increase the speed of the sequencing protocol. (scienceblog.com)
  • Once the overall process is perfected, NIST scientists will use it to sequence mitochondrial DNA collected by Johns Hopkins from 200 people, some with lung cancer and some without. (scienceblog.com)
  • Researchers were able to show that a primase enzyme PrimPol can generate a new primer adjacent to the damaged DNA sequence and re-initiate stalled replication in mitochondria. (eurekalert.org)
  • Mitochondrial DNA sequence variants in epithelial ovarian tumor subtypes and stages. (springer.com)
  • Identification of sequence polymorphisms in the D-Loop region of mitochondrial DNA as a risk factor for non-Hodgkin lymphoma. (springer.com)
  • Zhang J, Guo Z, Bai Y, Cui L, Zhang S, Xu J. Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for renal cell carcinoma. (springer.com)
  • Sequence polymorphisms of mitochondrial D-Loop and hepatocellular carcinoma outcome. (springer.com)
  • Ding C, Li R, Wang P, Fan H, Guo Z. Sequence polymorphisms of the mitochondrial displacement loop and outcome of non-small cell lung cancer. (springer.com)
  • The complete 94,192 bp sequence of the mitochondrial genome from race s of Podospora anserina is presented (1 kb=10 3 base pairs). (springer.com)
  • DNA sequence studies of several excision-amplification plasmids demonstrate a common feature to be the presence of short repeated sequences at both termini with a prevalence of GGCGCAAGCTC. (springer.com)
  • This is at times called the mtDNAFullSequence, the Mega Test, or the full mitochondrial sequence (FMS) test. (isogg.org)
  • To address these issues, we generated mitochondrial DNA sequence data for 409 black bears from 15 populations in North America. (bioone.org)
  • The authors say their full-sequence chip will be a key tool in accelerating research on mitochondrial DNA, a growing area of scientific interest. (bio-medicine.org)
  • This interest stems from data that suggests natural sequence variations and/or mutations in each person's mitochondrial DNA could be biologically informative in fields as diverse as cancer diagnostics, gerontology, and criminal forensics. (bio-medicine.org)
  • This can for the first time sequence all mitochondrial DNA quickly and reliably. (bio-medicine.org)
  • Roughly the size of a quarter, the silicon chip had lithographically annealed to it up to 135,000 short, arrayed bits of DNA sequence that, collectively, spanned most of a single strand of mitochondrial DNA. (bio-medicine.org)
  • By gathering mitochondrial DNA and breaking it into short, single-stranded bits, the scientists showed that each bit would pair, or hybridize, with its complementary sequence arrayed on the chip. (bio-medicine.org)
  • But if the extracted DNA contains mutations or other variations from the standard consensus sequence annealed to the chip, the bits with those changes would appear abnormal to the specially designed computer software programs that read the chip. (bio-medicine.org)
  • Marcia Haigis, HMS associate professor of cell biology , led a team that has uncovered SIRT4 as an important player in the DNA damage response pathway, coordinating a sequence of events that normally result[s] in tumor suppression . (medicalxpress.com)
  • Cladistic analysis of restriction site variation of the entire mitochondrial genome and nucleotide sequence variation of the mitochondrial control region was used to construct genetic relationships among mitochondrial genotypes. (wiley.com)
  • The researchers' goal is to obtain entire sequences from as little as about 200 nanograms of DNA, about 10 times less volume than other labs use. (scienceblog.com)
  • After tossing out duplicate and poor quality sequences, the researchers were left with 139 killer whale mitochondrial genome sequences representing 66 different haplotypes. (genomeweb.com)
  • The editorial board will also consider manuscripts that examine population genetic and systematic theory that specifically address the use of mitochondrial DNA sequences, as well as papers that discuss the utility of mitochondrial DNA information in medical studies and in human evolutionary biology. (wikipedia.org)
  • The REPLI-g Mitochondrial DNA Kit overcomes this limitation by enriching for mitochondrial DNA sequences in total DNA samples. (qiagen.com)
  • Mitochondrial DNA has remained inaccessible to those methods because the guide RNA molecules used to target specific DNA sequences to be edited can't get into mitochondria. (acs.org)
  • In fact, the year 2014 saw more than a thousand new mitochondrial genome sequences deposited in GenBank-an almost 15% increase from the previous year. (kenyon.edu)
  • In the September issue of the Journal of Molecular Diagnostics, NIH grantees report they have developed a second generation "lab on a silicon chip" called the MitoChip v2.0 that for the first time rapidly and reliably sequences all mitochondrial DNA. (bio-medicine.org)
  • To redress this, cytochrome oxidase c subunit I (COI) DNA sequences were used to estimate species diversity and to compare phoxocephalid amphipod assemblages among 20 stations encompassing a range of environmental conditions. (wiley.com)
  • DNA sequences ( n = 297) revealed high total diversity ( n = 49 MOTUs), as well as high beta diversity (28 MOTUs found at single location only). (wiley.com)
  • Significantly more heteroplasmic variants were in tRNA sequences of AMD samples (7) than in control samples (3), which may suggest an effect on mitochondrial protein synthesis in AMD. (arvojournals.org)
  • Nuclear-encoded regulatory proteins control mitochondrial translation. (news-medical.net)
  • The translation apparatus of the mitochondria is composed of rRNAs and tRNAs encoded by the mitochondrial DNA, together with proteins synthesized in the cytoplasm. (news-medical.net)
  • These include factors required for initiation, elongation, and termination: mitochondrial ribosomal proteins (MRPs), aminoacyl-tRNA synthetases, and methionyl-tRNA transformylase. (news-medical.net)
  • Though the initial trigger for the disease remains unknown, it is characterized by the generation of autoantibodies that recognize the patient's own DNA or RNA-protein complexes and the excessive production of type I interferons, signaling proteins that activate the body's immune response. (medicalnewstoday.com)
  • A bacterial toxin (yellow) is split into two pieces and each are guided to the spot to be edited on mitochondrial DNA by programmable DNA-binding proteins (orange and pink). (acs.org)
  • In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. (harvard.edu)
  • Oxidative damage to mitochondrial proteins, as measured by levels of protein carbonyls, was not significantly different between WT and D257A mice. (aacrjournals.org)
  • The principal mediators of nucleoid formation are mitochondrial HMG-box containing (mtHMG) proteins. (muni.cz)
  • We found that all three proteins exhibit relatively weak binding to intact double-stranded (ds) DNA. (muni.cz)
  • The mutation occurs in a gene that codes for RNA in mitochondrial ribosomes, which generate proteins required for cellular respiration. (medicalxpress.com)
  • damage to mitochondrial DNA is involved, as are changes in the expression of proteins necessary for mitophagy to function correctly. (fightaging.org)
  • It also demonstrates the importance of basic mitochondrial genetics and the relationship between mutations and disease phenotypes and ageing. (springer.com)
  • Genetics Home Reference provides information about mitochondrial DNA and related conditions written in consumer-friendly language. (nih.gov)
  • Changes in mitochondrial DNA are among the best-studied genetic factors associated with age-related hearing loss. (medlineplus.gov)
  • Some of the genetic changes alter single DNA building blocks (nucleotides), whereas others rearrange larger segments of mitochondrial DNA. (medlineplus.gov)
  • Researchers hope to use the technique to address the current lack of mitochondrial genetic diversity in crops, a potentially devastating weak point in our food supply. (eurekalert.org)
  • Nuclear DNA is the long double-helix genetic material inherited from both parents. (eurekalert.org)
  • Families who have lost a child from a mitochondrial DNA disease (fig 1 ⇓ ) often seek genetic counselling before trying to conceive again. (bmj.com)
  • Our data suggest that the genetic variation at the mitochondrial genome could significantly contribute to the risk for HCM. (nih.gov)
  • In conclusion, analysis of genetic polymorphisms in the mitochondrial D-loop can help identify subgroups of patients who are at a high risk of a poor disease outcome. (springer.com)
  • This DNA contains a mixture of genetic material from both parents. (nih.gov)
  • Sophisticated prenatal techniques, mitochondrial replacement techniques (MRTs), not yet in clinical practice, offer the potential to prevent a cruel multi-system genetic disease passing from mother to child long before birth. (medindia.net)
  • Mitochondrial Deoxyribonucleic acid: the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. (godandscience.org)
  • DNA ( Genetic material found in mitochondria, the organelles that generate energy for the cell. (godandscience.org)
  • DNA is transferred from the sperm to fertilize the egg, all the Genetic material found in mitochondria, the organelles that generate energy for the cell. (godandscience.org)
  • DNA variation in two South Siberian Aboriginal populations: implications for the genetic history of North Asia. (godandscience.org)
  • Natural selection and genetic drift go for mitDNA just as they do for nuclear DNA. (biology-online.org)
  • the precise order of the four nucleotide bases in a DNA molecule, resulting in an individual's genetic traits. (visionlearning.com)
  • The matrix contains enzymes , mitoribosomes, and the genetic material, i.e. tRNA and DNA. (biology-online.org)
  • The entire genetic information in mitochondria is called mitochondrial genome. (biology-online.org)
  • Recall that it is plausible that much of the benefit to health and longevity derived from increased autophagy, such as occurs in calorie restriction , administration of calorie restriction mimetic drugs , and in most of the life-extending genetic manipulations examined to date , is due to cells more aggressively clearing out mitochondrial damage. (fightaging.org)
  • This new mouse model will be instrumental in understanding genetic and environmental factors known to impact mitochondrial disease pathology. (medicalxpress.com)
  • Mitochondria, the energy-producing organelles that power our cells, are unique because they are equipped with their own genetic instructions distinct from the DNA stored in the cell nucleus. (bio-medicine.org)
  • Deoxyribonucleic acid (DNA) carries genetic information that is used as a set of instructions for growth and development, as well as the ultimate functioning and reproduction of living organisms. (differencebetween.net)
  • REPLI-g Mitochondrial DNA technology provides fast and highly uniform DNA amplification across the entire mitochondrial genome. (qiagen.com)
  • TFB2M is a gene duplication product which controls local 'melting' of the DNA necessary for transcription. (news-medical.net)
  • As the condition name suggests, mutations in the MPV17 gene cause MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome. (medlineplus.gov)
  • MPV17 gene mutations that cause MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome lead to production of a protein with impaired function. (medlineplus.gov)
  • Corn with that specific mitochondrial gene has not been planted since. (eurekalert.org)
  • The present study analyses the partial coding region of the mitochondrial cytochrome oxidase subunit I gene of ten hopper paddy pest species Nilaparvata lugens, Cofana spectra, Nephotettix virescens, Recilia dorsalis, Nephotettix malayanus, Nephotettix nigropictus, Sogatella furcifera, Nisia carolinensis, Thaia subrufa and Proutista moesta . (ukessays.com)
  • The barcoding region is a gene segment within a protein-coding region of the mitochondrial genome. (ukessays.com)
  • The points of interest of utilizing the COI for barcoding the mitochondrial genome is frequently connected with well-conserved primers and the COI gene is especially rich in highly conserved primers. (ukessays.com)
  • Croteau DL, Bohr VA. Repair of oxidative damage to nuclear and mitochondrial DNA in mammalian cells. (springer.com)
  • Sparks JL, Gerik KJ, Stith CM, Yoder BL, Burgers PM. The roles of fission yeast exonuclease 5 in nuclear and mitochondrial genome stability. (harvard.edu)
  • Several reports have claimed a role of defective nuclear and mitochondrial DNA repair pathways in PD etiology, in particular, of the Base Excision Repair (BER) system. (mdpi.com)
  • Because of the high rate of evolution, mitochondrial DNA is likely to be an extremely useful molecule to employ for high-resolution analysis of the evolutionary process. (pnas.org)
  • This causes a sharp 180° bend in the DNA molecule. (news-medical.net)
  • The animal mitochondrial genome is a relatively small molecule contained in a single circular structure with remarkable conservation between species. (eurekalert.org)
  • Additionally, researchers developed a molecule to block VDAC pore formation and, in turn, prevent cell death, mitochondrial DNA from exiting the mitochondria, and restore the organelle's function. (nih.gov)
  • The chip exploited the fact that DNA exists naturally as a double-stranded molecule. (bio-medicine.org)
  • Each DNA molecule is comprised of two biopolymer strands coiling around each other to form a double helix. (differencebetween.net)
  • We compared the frequencies of these polymorphisms and mitochondrial haplogroups between patients and controls. (nih.gov)
  • Methods: We undertook an analysis of mitochondrial haplogroups in a large, well-characterized cohort of 1,094 TBI patients. (soton.ac.uk)
  • A proportional odds model including age, brain computed tomography characteristics, injury severity, pupillary reactivity, mitochondrial haplogroups, and APOE was applied to Glasgow Outcome Score (GOS) data. (soton.ac.uk)
  • We also found a strong interaction between APOE and mitochondrial haplogroups (p? (soton.ac.uk)
  • Dienekes' Anthropology Blog: Mitochondrial DNA Haplogroups and Lipoatrophy After Antiretroviral Therapy. (blogspot.com)
  • Mitochondrial DNA Haplogroups and Lipoatrophy After Antiretroviral Therapy. (blogspot.com)
  • Mitochondrial DNA Haplogroups Influence Lipoatrophy After Highly Active Antiretroviral Therapy. (blogspot.com)
  • Some cases of cyclic vomiting syndrome, particularly those that begin in childhood, may be related to changes in mitochondrial DNA. (medlineplus.gov)
  • Can changes in mitochondrial DNA affect health and development? (nih.gov)
  • In some cases, inherited changes in mitochondrial DNA can cause problems with growth, development, and function of the body's systems. (nih.gov)
  • MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. (medlineplus.gov)
  • Individuals with MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood. (medlineplus.gov)
  • MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. (medlineplus.gov)
  • People with Navajo neurohepatopathy tend to have a longer life expectancy than those with MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome. (medlineplus.gov)
  • MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. (medlineplus.gov)
  • Mitochondrial DNA depletion impairs mitochondrial function in many of the body's cells and tissues, particularly the brain, liver, and other tissues that have high energy requirements. (medlineplus.gov)
  • As a result, reactive oxygen species easily damage mitochondrial DNA, causing cells to malfunction and ultimately to die. (medlineplus.gov)
  • Reactive oxygen species (ROS), especially those of mitochondrial origin, are most likely among those main causes [ 9 - 11 ]. (hindawi.com)
  • In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. (medlineplus.gov)
  • T ypically, humans inherit mitochondria and mitochondrial DNA from their mothers only. (the-scientist.com)
  • This is very convincing evidence of paternal transmission in humans," says Patrick O'Farrell who studies mitochondrial genome inheritance in fruit flies at the University of California, San Francisco. (the-scientist.com)
  • Nevertheless, there are certain instances that paternal inheritance of mitochondrial genome in humans were described. (biology-online.org)
  • Aging effects and cancer development have been linked to exposure to ROS in humans, particularly through injury to both mitochondrial and nuclear DNA ( 1 ). (aacrjournals.org)
  • Thus, our results suggest that mitochondrial damage and nuclear DNA fragmentation are likely to be critical events in APAP hepatotoxicity in humans, resulting in necrotic cell death. (jci.org)
  • As people age, mitochondrial DNA accumulates damaging mutations, including deletions and other changes. (medlineplus.gov)
  • This susceptibility to deleterious mutations is offset to an extent by the presence of multiple copies of the mitochondrial genome in every cell. (aacrjournals.org)
  • A cell contains numerous mitochondria, and each mitochondrion contains dozens of copies of the mitochondrial genome. (kenyon.edu)
  • The Yale scientists focused on a specific mitochondrial DNA mutation that causes maternally inherited deafness. (medicalxpress.com)
  • Mitochondrial transcription is a three-step process as with genomic DNA transcription: initiation, elongation, and termination. (news-medical.net)
  • Residual amounts of amplified genomic DNA are minimized and do not interfere with mitochondrial-specific downstream methods such as qPCR or direct Sanger sequencing. (qiagen.com)
  • Which enzyme can distinguish between mitochondrial and genomic DNA and only remove gDNA? (neb.com)
  • Genomic DNA were isolated from RPE/choroid trephine punches from macular region of donor eyes of 46 AMD patients and 46 matched by age and ethnicity controls. (arvojournals.org)
  • Mutations within the DNA of mitochondria - a circular strand containing more than 16,000 nucleotide base pairs - have been implicated in a variety of cancers. (scienceblog.com)
  • The scientists looked at 10 mitochondrial DNA mutations (arising from single nucleotide replacements) often found in patients with mitochondrial disease. (scientistlive.com)
  • The authors engineered animals so that their immune cells lack the protein TFAM, which is required for mitochondrial DNA replication. (nature.com)
  • Comparison of the maps, aligned with respect to the origin and direction of DNA replication, revealed that the species differ from one another at most of the cleavage sites. (pnas.org)
  • A central part of the protective mechanism is an unusual enzyme, PrimPol, which can re-initiate mitochondrial DNA replication after damage. (eurekalert.org)
  • From that observation we have suspected that there may be a large number of people in the general population who carry pathogenic mitochondrial DNA mutations, but who are not obviously ill with a mitochondrial disease. (scientistlive.com)
  • This study gives us, for the first time, a measurement of the number of these carriers of pathogenic mitochondrial DNA mutations in the general population. (scientistlive.com)
  • Dr. Samuels commented: 'These new clinical measurements have given direct evidence for the widespread incidence of pathogenic mitochondrial DNA mutations in the human population. (scientistlive.com)
  • Similarly, lipid peroxidation, measured as the amount of F 2 -isoprostanes, and oxidative damage to nucleic acids, determined by levels of 8-oxodeoxyguanosine (DNA) or 8-oxoguanosine (RNA), were also not elevated in the D257A mice. (aacrjournals.org)
  • Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. (medlineplus.gov)
  • While DNA is found in the nucleus of the cell, mitochondria also contain DNA, although this DNA is much smaller than the one found in the nucleus of our cells. (medicalnewstoday.com)
  • Mitochondria contain DNA completely separate from the cell's main DNA, which is stored in the nucleus. (eurekalert.org)
  • The nucleus has two copies of DNA, one parental and the other maternal both intricately woven into chromosomes. (brighthub.com)
  • Most of our DNA is in the cell's nucleus. (nih.gov)
  • The tools in question, mitochondrial replacement techniques (MRTs), aim to prevent mother-to-child transmission of mitochondrial DNA disease --a complex set of rare disorders caused by defective DNA within the mitochondria, the tiny energy-producing structures existing outside the nucleus of cells. (medindia.net)
  • Finally, because MRTs require mixing mitochondrial DNA from a female donor with DNA from the nucleus of the mother and father, the authors note that researchers should investigate unanticipated health problems and possibly questions about identity, before regulatory approval or clinical use can occur for the techniques. (medindia.net)
  • Most of the DNA is in the cell nucleus on chromosomes . (wikipedia.org)
  • most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts. (wikipedia.org)
  • This paper demonstrates in a non-human primate model that a defective mitochondrial genome can be replaced by transferring the spindle-chromosome complex from one egg into an egg from which the nucleus is removed. (natureasia.com)
  • The mitochondria have their own DNA distinct from that stored in the cell nucleus. (bio-medicine.org)
  • In February 2020, a jellyfish-related parasite - Henneguya salminicola - was discovered that lacks mitochondrial genome but retains structures deemed mitochondrion-related organelles. (wikipedia.org)
  • Deletion of the mtEFG2 in yeast, in contrast to mtEFG1, does not affect mitochondrial protein synthesis. (news-medical.net)
  • mitochondrial protein synthesis. (ebi.ac.uk)
  • The chromosomes are divided and both parents contribute to their offspring's chromosomal DNA (in those species which reproduce sexually, which is almost all). (everything2.com)
  • Mitochondrial DNA was purified from four species of higher primates (Guinea baboon, rhesus macaque, guenon, and human) and digested with 11 restriction endonucleases. (pnas.org)
  • A cleavage map was constructed for the mitochondrial DNA of each species. (pnas.org)
  • In so doing, they identified dozens of mitochondrial haplotypes that point to the existence of at least three killer whale species. (genomeweb.com)
  • They also predicted that mitochondrial genome sequencing will play an increasingly large role in classifying other species as well. (genomeweb.com)
  • Mitochondrial ROS generation occurs continuously throughout life at a animal species-specific rate [ 12 ] independent of the rate of mitochondrial oxygen consumption but related to the longevity of each species and, consequently, with their rate of aging [ 11 , 13 ]. (hindawi.com)
  • Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. (wikipedia.org)
  • In contrast, all individuals of at least three species of bark weevil (Curculionidae: Pissodes) possess a mitochondrial genome of unusually large size (30-36 kb). (genetics.org)
  • However, to denature DNA sample from non-human species, the REPLI-g Human mt Primer Mix should be substituted with the appropriate primer mix for that species (not included in the kit). (qiagen.com)
  • 2009). Some controversy has also surrounded proposals to utilize DNA barcodes for identification of new species. (ukessays.com)
  • We also speculate that the distinct biochemical properties of CpGcf1p may represent one of the prerequisites for frequent evolutionary tinkering with the form of the mitochondrial genome in the CTG-clade of hemiascomycetous yeast species. (muni.cz)
  • It is suggested that the melanic, polyploid clones are hybrids between males of D. pulex (and/or a closely related congener, D. pulicaria ) and females of either of two ancestral melanic species that have mitochondrial lineages A and B. Geographic patterns of mitochondrial diversity in 'melanic' lineage B support the hypothesis of an high-arctic refuge for the ancestral species during the last glacial period. (wiley.com)
  • Michael P. Murphy is at the Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK. (nature.com)
  • The REPLI-g Mitochondrial DNA Kit is intended for molecular biology applications. (qiagen.com)
  • Being able to edit mitochondrial DNA is very important from both a basic biology and a disease perspective," says Vamsi K. Mootha, an expert on mitochondrial biology at Harvard Medical School and the Howard Hughes Medical Institute (HHMI), who was involved in the new study. (acs.org)
  • Trypanosomes are single celled eukaryotes that are only distantly related to the major model systems for mitochondrial biology, like yeast, mouse or human. (cam.ac.uk)
  • This talk is part of the MRC Mitochondrial Biology Unit Seminars series. (cam.ac.uk)
  • This is a very interesting study, bringing compelling evidence that bi-parental inheritance of mitochondrial DNA happens in human," Sophie Breton , an evolutionary geneticist who studies mitochondrial genome inheritance at the University of Montreal and who was not involved in the work, writes in an email to The Scientist . (the-scientist.com)
  • Until recently mitochondrial DNA was thought to be inherited only from the mother, and this mode of inheritance is still solid and widely accepted. (kenyon.edu)
  • Most of the earlier estimates of the frequency of mitochondrial DNA mutations in the general population, for example, have depended on identification of clinically affected patients and subsequent retracing of inheritance on the maternal side of the family. (scientistlive.com)
  • Paternal inheritance of chloroplast DNA and maternal inheritance of mitochondrial DNA in loblolly pine. (nii.ac.jp)
  • Paternal Inheritance of Chloroplast and Mitochondrial DNA in Interspecific Hybrids of Chamaecyparis spp. (nii.ac.jp)
  • The REPLI-g Mitochondrial DNA Kit provides specific amplification of the whole human mitochondrial genome, and yields approximately 4 µg of amplified mitochondrial DNA per reaction. (qiagen.com)
  • In the early 1980s, scientists in England performed the then-Herculean feat of sequencing the complete human mitochondrial genome. (bio-medicine.org)
  • Most animals, specifically bilaterian animals, have a circular mitochondrial genome. (wikipedia.org)
  • Mitochondria contain their own ∼16.5-kb circular DNA encoding essential subunits of the electron transport chain complexes as well as the tRNAs and rRNAs necessary for their translation. (aacrjournals.org)
  • Every cell contains a herd of hundreds of mitochondria , bacterial-like structures that contain a small circular genome, the mitochondrial DNA . (fightaging.org)
  • These data suggest that mitochondrial DNA haplogroup may influence the propensity for lipoatrophy in patients receiving nucleoside reverse transcriptase inhibitors. (blogspot.com)
  • We also observed over-representation of H haplogroup (Caucasian mitochondrial haplogroup) among FRDA patients. (curefa.org)
  • We have not observed the influence of mitochondrial variations and haplogroup upon age at onset of FRDA. (curefa.org)
  • The study "Oxidized mitochondrial nucleoids released by neutrophils drive type I interferon production in human lupus," which will be published online April 18 in The Journal of Experimental Medicine , suggests that targeting the pathways that lead to the accumulation of this DNA and/or facilitate its removal could be new ways to treat this chronic autoimmune disease. (medicalnewstoday.com)
  • Therapeutic efforts to enhance pathways involved in oxidized mitochondrial DNA degradation should be explored in human SLE, a disease for which only one new drug has been approved in the past 50 years," says Pascual. (medicalnewstoday.com)
  • Here, we describe existing knowledge on the involvement of mitochondrial DNA in the anti-microbial immunity by modulating the various immune signaling pathways. (mdpi.com)
  • The data also suggest that the APOE pathways interact with genetically regulated mitochondrial functions in the response to acute injury, as previously reported in Alzheimer disease. (soton.ac.uk)
  • The total yield of mitochondrial DNA after amplification was up to 4 µg, corresponding to a 4 x 10 7 -fold increase in mitochondrial DNA. (qiagen.com)
  • Mitochondrial DNA is maternally inherited and there can be marked phenotypic variability within the same family. (curefa.org)
  • Medical Xpress) -- Yale scientists have discovered the molecular pathway by which maternally inherited deafness appears to occur: Mitochondrial DNA mutations trigger a signaling cascade, resulting in programmed cell death. (medicalxpress.com)
  • Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer. (springer.com)
  • Mitochondrial DNA is also prone to somatic mutations, which are not inherited. (nih.gov)
  • Somatic mutations occur in the DNA of certain cells during a person's lifetime and typically are not passed to future generations. (nih.gov)
  • A buildup of somatic mutations in mitochondrial DNA has been associated with some forms of cancer and an increased risk of certain age-related disorders such as heart disease, Alzheimer disease , and Parkinson disease . (nih.gov)
  • A new study by a team of researchers at Cornell University has found a connection between autism and mutations in mitochondrial DNA. (medicalnewstoday.com)
  • The researchers found a larger number of harmful mutations in the mitochondrial DNA of children with ASD compared with that of their family members, who do not have the disorder. (medicalnewstoday.com)
  • Researchers in Japan have edited plant mitochondrial DNA for the first time, which could lead to a more secure food supply. (eurekalert.org)
  • Researchers at the Baylor Institute for Immunology Research have discovered that the neutrophils of systemic lupus erythematosus (SLE) patients release oxidized DNA from their mitochondria that can stimulate an unwanted immune response. (medicalnewstoday.com)
  • The researchers discovered that, to safely rid themselves of oxidized mitochondrial DNA, neutrophils usually disassemble their nucleoids and transfer the oxidized DNA to the cell's lysosomes for degradation. (medicalnewstoday.com)
  • Researchers at the University of Eastern Finland have discovered a novel mechanism safeguarding mitochondrial DNA. (eurekalert.org)
  • Researchers at UT Southwestern Medical Center have identified synthetic RNA and DNA that reverses the protein deficiency causing Friedreich's ataxia. (medindia.net)
  • Researchers identify unique cases in which people inherited mitochondrial DNA not just from their mother but also from their father. (the-scientist.com)
  • Researchers have struggled to capture how mitochondrial DNA escapes the mitochondria-the energy powerhouse-in living cells. (nih.gov)
  • Researchers at the University of Newcastle, England, and the Virginia Bioinformatics Institute at Virginia Tech in the United States have revealed a large reservoir of mitochondrial DNA mutations present in the general population. (scientistlive.com)
  • By taking advantage of a high-throughput genotyping system that uses mass spectrometry measurements, the researchers were able to detect mutated mitochondrial DNA at high sensitivity. (scientistlive.com)
  • By looking at differences in tissue samples from mother and child, the researchers were also able to estimate the rate at which new DNA mutations had arisen in the population. (scientistlive.com)
  • But when the researchers overexpressed the enzyme in mice to mimic the effects of the mutation, he said, we were astonished to discover that the animals progressively lost their hearing, reflecting how such disease would develop due to a known pathogenic human mitochondrial DNA mutation. (medicalxpress.com)
  • Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson's Disease? (hindawi.com)
  • Joanne Clark, Ying Dai, and David K. Simon, "Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson's Disease? (hindawi.com)
  • It's not clear how frequent this is because mitochondrial DNA sequencing is only done when a mitochondrial disease is suspected," says Huang. (the-scientist.com)
  • Mitochondrial complex I (CI) activity appears to play a key role in the pathogenesis of Parkinson?s disease (PD). (labome.org)
  • Clinical analysis of blood samples from almost 3,000 infants born in north Cumbria, England, showed that at least 1 in 200 individuals in the general public harbour mitochondrial DNA mutations that may lead to disease. (scientistlive.com)
  • The proportion of mutant mitochondrial DNA in most cases determines the severity of disease. (scientistlive.com)
  • This approach fails to detect the gradual accumulation of mutations in some members of the population, including those individuals who harbour mitochondrial DNA mutations but who otherwise do not show the symptoms of disease. (scientistlive.com)
  • One crude way to assess the state of mitochondria in cells is to count the number of copies of mitochondrial DNA that are present, a number that changes with aging and disease. (fightaging.org)
  • The identification of a mitochondrial complex-I defect in PD provides a link between toxin models of the disease, and clues to the pathogenesis of idiopathic PD. (portlandpress.com)
  • Although the health consequences of inherited mitochondrial DNA mutations vary widely, frequently observed features include muscle weakness and wasting, problems with movement, diabetes, kidney failure, heart disease, loss of intellectual functions (dementia), hearing loss, and abnormalities involving the eyes and vision. (nih.gov)
  • The Neuromuscular Disease Center at Washington University provides an in-depth description of many mitochondrial conditions . (nih.gov)
  • There was no family history suggestive of neuromuscular or mitochondrial disease particularly on the maternal side of the family, although the mother has never undergone muscle biopsy. (bmj.com)
  • All three families were identified after at least one member presented with symptoms that lead them to be tested for mitochondrial disease. (ivf.net)
  • Some mutations can behave as both dominant and recessive alleles (in other words, for some patients, a POLG mutation on one copy of DNA is enough to cause the disease, but for others, two POLG mutations are required - one from the mother and one from the father). (enmc.org)
  • This led to a loss of mitochondrial DNA, resulting in defective inflammasome activation. (nature.com)
  • Overall, this study identifies the functionally important variations and mitochondrial lineage of Indian FRDA cases and, that underscores the importance of studying the role of mitochondrial genome variations in FRDA. (curefa.org)
  • The v2.0 is a very good tool in that we've also arrayed 500 of the most common haplotypes - or grouped patterns of known DNA variations - banked in the mitochondrial public database. (bio-medicine.org)
  • Cells that have high energy demands, such as those in the inner ear that are critical for hearing, are particularly sensitive to the effects of mitochondrial DNA damage. (medlineplus.gov)
  • Although cells are able to tolerate DNA damage, problems might arise when the DNA is replicated. (eurekalert.org)
  • Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected. (harvard.edu)
  • Mitochondrial DNA alterations in response to smoking persist for several decades after smoking cessation, consistent with long-term, smoking-related damage. (aacrjournals.org)
  • The mitochondrial genome is highly susceptible to DNA damage inflicted by ROS and mutagens and exhibits higher rates of mutation than does the nuclear genome, and DNA damage persists longer in the mitochondrial genome ( 2 , 3 ). (aacrjournals.org)
  • Studies of lung tissue from smokers have shown elevated measures of DNA damage and increased DNA mutation when compared with lung tissue from nonsmokers ( 20 - 22 ). (aacrjournals.org)
  • archives, you'll find a lot of material on mitochondria , mitochondrial DNA , and how accumulated damage to mitochondrial DNA contributes greatly to aging . (fightaging.org)
  • We can hope that these lines of research will gain the funding and support needed to produce therapies capable of reversing mitochondrial damage and its contribution to degenerative aging. (fightaging.org)
  • A healthy mitochondrion contains the metabolic regulator SIRT4, which responds to DNA damage and other stress. (medicalxpress.com)
  • New research reveals that SIRT4 is also extremely sensitive to a different form of stress: DNA damage. (medicalxpress.com)
  • What we found, to our surprise, was that SIRT4 was responsive to DNA damage, so that led us to investigate the metabolic response to DNA damage and how SIRT4 controls the metabolic response to genotoxic stress. (medicalxpress.com)
  • To see how SIRT4 normally functions, Haigis and her colleagues induced DNA damage by exposing cells in a lab dish to ultraviolet light. (medicalxpress.com)
  • If cell growth after DNA damage goes unchecked, proliferation of impaired cells can lead to cancer. (medicalxpress.com)
  • Without SIRT4, the cell keeps dividing even in the face of DNA damage, so the cell accumulates more damage. (medicalxpress.com)
  • SIRT4 Has Tumor-Suppressive Activity and Regulates the Cellular Metabolic Response to DNA Damage by Inhibiting Mitochondrial Glutamine Metabolism, Cancer Cell , April 4, 2013. (medicalxpress.com)
  • In this study, we first examined the oxidative DNA damage in kidney of streptozotocin (STZ)-induced diabetic rats by measuring the levels of 8-OHdG in kidney and urine. (diabetesjournals.org)
  • Oxidized mitochondrial DNA released from neutrophils therefore induces an immune response and may contribute to SLE pathogenesis. (medicalnewstoday.com)
  • It is hypothesized that HFE induces changes in cell cycle progress, membrane integrity, mitochondrial function and biogenesis. (unboundmedicine.com)
  • The final genome type that can be found in plant and fungi is a linear genome made up of homogeneous DNA molecules (type 5). (wikipedia.org)
  • The deoxyribonucleic acid (DNA) contains all the information that enables the human body to function properly. (brighthub.com)
  • The central nervous system has a particularly high energy requirement, thus making it very susceptible to defects in mitochondrial function. (portlandpress.com)
  • The evidence comes from experiments employing mitochondrial termination factor 1 (MTERF1) knockouts. (news-medical.net)
  • They each occupy separate functionalities, demonstrated by evidence that defective mtEFG1 is implicated in mitochondrial disorders. (news-medical.net)
  • Besides a single case study of an individual with evidence of paternally inherited mitochondrial DNA, the current work is the first to study this phenomenon in human families. (the-scientist.com)
  • I noticed a paper today that might be taken as evidence that working to repair mitochondrial DNA is an idea slowly gaining popularity in the scientific community. (fightaging.org)
  • The Muscular Dystrophy Association offers an introduction to mitochondrial disorders as part of their fact sheet called Mitochondrial Myopathies . (nih.gov)
  • Earlier efforts to correct mitochondrial disorders have proven frustrating. (nih.gov)
  • An overview of mitochondrial disorders is available from GeneReviews. (nih.gov)
  • Additional information about mitochondrial disorders is available from Cincinnati Children's Hospital Medical Center. (nih.gov)
  • Nuclear DNA was first edited in the early 1970s, chloroplast DNA was first edited in 1988, and animal mitochondrial DNA was edited in 2008. (eurekalert.org)