• 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)
  • 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)
  • REPLI-g Mitochondrial DNA technology provides fast and highly uniform DNA amplification across the entire mitochondrial genome. (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)
  • In multiple species, certain tissue types are prone to acquiring greater loads of mitochondrial genome (mtDNA) mutations relative to others, however the mechanisms that drive these heteroplasmy differences are unknown. (biorxiv.org)
  • We found that the conserved PTEN-induced putative kinase (PINK1/PINK-1) and the E3 ubiquitin-protein ligase parkin (PDR-1), which are required for mitochondrial autophagy (mitophagy), underlie stereotyped differences in heteroplasmy of a deleterious mitochondrial genome mutation (ΔmtDNA) between major somatic tissues types in Caenorhabditis elegans . (biorxiv.org)
  • The ability of human nuclear DNA to cause false positive low-abundance heteroplasmy calls varies across the mitochondrial genome. (utmb.edu)
  • The human mitochondrial genome encodes proteins critical for ATP synthesis, therefore, defects in the maintenance of mitochondrial DNA (mtDNA) result in energy deprivation and may lead to the development of degenerative disorders involving the heart, muscles, kidneys, liver and the central nervous system (1-3). (hhs.gov)
  • The PI proposes to investigate a putative mechanism that prevents the formation of large-scale deletions in mtDNA, which are the most common (de novo) defects of the mitochondrial genome (15-17). (hhs.gov)
  • Furthermore, identification and characterization of a direct relationship between the capacity of a cell to remove defective mitochondrial replisomes and the integrity of the mitochondrial genome would bring to the field a novel and exciting perspective on the development of mitochondrial disorders, with a potential for therapeutic applications. (hhs.gov)
  • and maintain the integrity of the human mitochondrial genome. (medscape.com)
  • DNA microarrays can be used in genome-wide association studies (GWAS) to compare patient and control populations to identify DNA variants that can contribute to disease risk. (msdmanuals.com)
  • Array comparative genomic hybridization (aCGH) is a type of microarray now routinely used to identify deleted or duplicated regions of DNA sequence in specific chromosomes on a genome-wide basis. (msdmanuals.com)
  • DNA from a patient is compared to a reference genome using many oligonucleotide probes. (msdmanuals.com)
  • Y against the human mitochondrial DNA (mtDNA) polymerase gamma and can result in impaired mitochondrial replication with mitochondrial loss or dysfunction[1]. (cathepsin-s.com)
  • XPF-ERCC1 is a highly conserved, heterodimeric, structure-specific endonuclease complex required for lesion excision in NER 26 , 27 that is thought to play an analogous role in the repair of DNA interstrand crosslinks (ICLs) that covalently link both DNA strands preventing transcription and replication 28 . (nature.com)
  • Pol γ "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication . (medlineplus.gov)
  • The accuracy of mitochondrial DNA (mtDNA) replication depends on the coordinated action of many nuclear-encoded proteins and on the correct balance of nucleotides within the mitochondrial matrix. (novusbio.com)
  • The composition of the mitochondrial DNA (mtDNA) in each cell is in constant flux through processes of mutation, replication, and degradation. (biorxiv.org)
  • Importance of disentanglement and entanglement during DNA replication and segregation: Comment on: "Disentangling DNA molecules" by Alexander Vologodskii. (utmb.edu)
  • The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. (blogspot.com)
  • Although its precise biological function remains unclear, its proximity to mitochondrial DNA (mtDNA) makes it an excellent candidate to participate in mtDNA replication, metabolism and maintenance. (mdpi.com)
  • A team of Dutch investigators attempting to elucidate the pathogenesis of primary open-angle glaucoma (POAG), the most common of the glaucomas, found that fewer mitochondrial DNA (mtDNA) copies were present in the blood of patients with high-tension glaucoma (HTG) compared with those with normal-tension glaucoma (NTG), suggesting that genetically deficient mtDNA replication may be a culprit in HTG. (ophthalmologytimes.com)
  • Most likely, this indicates a genetic predisposition for suboptimal mitochondrial function and mtDNA replication, which may become critical with age and rising IOP, in postmitotic, high-energy-demanding cells such as RGCs, and may thus contribute to glaucoma pathology. (ophthalmologytimes.com)
  • Translesion synthesis (TLS) employs specialized DNA polymerases to bypass replication fork stalling lesions. (figshare.com)
  • DNA is the biological information that instructs cells how to exist in an ordered fashion: accurate replication is thus one of the most important events in the life cycle of a cell. (embl.de)
  • The mechanism of deletions formation is unknown, but studies reported to date indicate that they commonly originate from mtDNA replication stalling, which promotes breakage of DNA strands. (hhs.gov)
  • Stavudine triphosphate inhibits HIV replication by competing with the natural substrate, thymidine triphosphate, and by inhibiting viral DNA synthesis by acting as a terminator of chain elongation. (affygility.com)
  • Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (medscape.com)
  • The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. (musc.edu)
  • DNA Polymerase γ (gamma), POLG, is the sole mitochondrial replicative DNA polymerase. (mitomap.org)
  • The POLG Pathogenicity Server combines an analysis of the structural properties of the POLG holoenzyme with existing patient data, providing a tool to support the diagnosis of possible POLG -related mitochondrial dysfunction. (mitomap.org)
  • Lee, YS, Kennedy, WD & Yin, YW 2009, ' Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations (DOI:10.1016/j.cell.2009.07.050) ', Cell , vol. 139, no. 4, pp. 828. (utmb.edu)
  • Small RNA molecules are generally used as primers for chain elongation, although terminal proteins may also be used for the de novo synthesis of a DNA chain. (embl.de)
  • In addition, stavudine triphosphate inhibits cellular DNA polymerases beta and gamma, and markedly reduces the synthesis of mitochondrial DNA. (affygility.com)
  • In vivo mitochondrial function [maximal ATP synthesis rate (ATPmax), ATPflux/O 2 (P/O)] was determined by 31 P-magnetic resonance spectroscopy and optical spectroscopy, and body composition was determined by dual-energy X-ray absorptiometry. (medscape.com)
  • Mitochondrial dysfunction can be caused by a number of mechanisms including mtDNA deletions. (nature.com)
  • However, we still do not have a clear understanding of whether mtDNA mutations and subsequent mitochondrial dysfunction is involved in diabetic neuropathy. (nature.com)
  • Mitochondrial dysfunction is a well-known pathological feature of DMD. (frontiersin.org)
  • However, whether mitochondrial dysfunction occurs before muscle fiber damage in DMD pathology is not well known. (frontiersin.org)
  • We hypothesized that dystrophin deletion leads to mitochondrial dysfunction, and that this may occur before myofiber necrosis. (frontiersin.org)
  • As a secondary complication to mitochondrial dysfunction, we also hypothesized metabolic abnormalities prior to the onset of muscle damage. (frontiersin.org)
  • Mitochondrial DNA (mtDNA) is easily damaged by reactive oxygen species, and it may cause dysfunction in tissues, leading to early events in cardiovascular disease. (astm.org)
  • Mitochondrial dysfunction has shown out to be a common cause of human inherited disease, with amazing clinical variability, from neonatal fatal multisystem disorders to diabetes, neurodegeneration, dysfertility or tumorigenesis of adult age. (helsinki.fi)
  • Due to the variability of mitochondrial disease phenotypes, however, it is unlikely that a single therapy would be beneficial for all kinds of mitochondrial dysfunction. (helsinki.fi)
  • Mitochondrial DNA (mtDNA) high quality and amount relate to 2 hallmarks of aging-genomic instability and mitochondrial dysfunction. (mitoproteins.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)
  • A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. (medscape.com)
  • 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)
  • Rothmund-Thomson syndrome (poikiloderma congenitale) has been attributed to mutations of the RECQL4 gene on 8q24, which encodes a RecQ DNA helicase. (medscape.com)
  • DNA microarrays are powerful tools that can be used to identify DNA mutations. (msdmanuals.com)
  • This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol γ). (medlineplus.gov)
  • Co-transcriptional pre-mRNA processing relies on reversible phosphorylation of the carboxyl-terminal domain (CTD) of Rpb1, the largest subunit of RNA polymerase II (RNAP II). (cipsm.de)
  • A rapid diagnostic 'mulitplex' one-step polymerase chain reaction protocol (RD-PCR) was developed using cytochrome oxidase subunit 1 (COX1) mitochondrial DNA (mtDNA) to discriminate between S. haematobium and S. bovis. (imperial.ac.uk)
  • In particular, we clarify the functions of DNA polymerase gamma, the replicative mtDNA polymerase, and its functional companion Twinkle, the replicative helicase. (helsinki.fi)
  • Muscle fiber segments with deficiency of cytochrome c oxidase, which is partially encoded by mitochondrial DNA, had accumulated mitochondrial DNA with deletions and showed reduced levels of wild-type mitochondrial DNA. (nih.gov)
  • Young, clinically affected individuals of this family without limb muscle symptoms did not show mitochondrial DNA deletions or cytochrome c oxidase-deficient muscle fibers. (nih.gov)
  • The mitochondrial cytochrome c oxidase 1 ( cox1 ) gene was targeted in PCR amplification and sequencing. (cdc.gov)
  • Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. (medlineplus.gov)
  • Several HAART medications may be toxic to mitochondria by inhibiting mitochondrial DNA polymerase. (medscape.com)
  • Furthermore, we systematically characterized mitochondria during disease progression starting before the onset of muscle damage, noting additional changes in mitochondrial DNA copy number and regulators of mitochondrial size. (frontiersin.org)
  • Mitochondrial functionalities have been additionally altered in NEK1 KO cells, with phenotypes of diminished mitophagy, elevated whole mitochondria, elevated ranges of reactive oxygen species, impaired advanced I exercise, and better quantities of mitochondrial DNA harm. (mitoproteins.org)
  • Mitochondria contain their own "gene material" (DNA), which is called "mitochondrial DNA" abbreviated as mtDNA. (enmc.org)
  • Mitochondrial DNA with multiple different deletions shows clonal expansion, which leads to mitochondrial myopathy with ragged-red fibers and muscle weakness. (nih.gov)
  • Clinical manifestations of mitochondrial toxicity P/Q-type calcium channel medchemexpress differ based on the affected tissues, but might contain myopathy, neuropathy, hepatic steatosis, pancreatitis, macrocytosis, nephrotoxicity, hyperlactatemia and LA. All nucleoside analogues possess a "black box" warning with regards to potential mitochondrial toxicity in their item labeling. (cathepsin-s.com)
  • An A-to-G point mutation at nucleotide pair (np) 3243 (3243 mutation) in mitochondrial DNA (mtDNA) is a well-known pathogenic mutation, which has been found in approximately 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). (nih.gov)
  • Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. (medscape.com)
  • Methods: In these studies we evaluated aortic mitochondrial alterations by oxidative stress assays, including quantitative polymerase chain reaction of mitochondrial (mt) DNA and plaque formation by morphometric analysis in mice exposed to SWCNTs. (cdc.gov)
  • We conducted an ancillary study to the CALERIE 2 randomized controlled trial to examine the effects of 12 months of 25% CR on in vivo skeletal muscle mitochondrial energetics, mitochondrial content, and markers of oxidative stress. (medscape.com)
  • On the other hand, our preliminary results indicate that a stalled mitochondrial replicative polymerase remains DNA-bound for a significant extent of time, which could be deleterious and likely requires active elimination. (hhs.gov)
  • Sporadic progressive external ophthalmoplegia and Kearns-Sayre syndrome are usually associated with single large-scale mitochondrial DNA deletions in muscle. (nih.gov)
  • In progressive external ophthalmoplegia with autosomal dominant inheritance, multiple mitochondrial DNA deletions have been reported. (nih.gov)
  • We studied several members of a Swedish family with autosomal dominant progressive external ophthalmoplegia and multiple mitochondrial DNA deletions by polymerase chain reaction analysis of single muscle fibers and by in situ hybridization, combined with enzyme histochemical analysis. (nih.gov)
  • Our results indicate that a nuclear factor predisposes to the development of somatic multiple mitochondrial DNA deletions. (nih.gov)
  • To investigate the potential role of mitochondrial DNA (mtDNA) deletions in the observed effects of EQ, we measured total mtDNA deletion burden in the distal sciatic nerve. (nature.com)
  • In line with this, they investigated whether the mtDNA copy number or mtDNA deletions could reveal a mitochondrial component in the pathophysiology of POAG. (ophthalmologytimes.com)
  • Deletions are most likely formed in the process of DNA breaks repair (18-20). (hhs.gov)
  • Notably, the absence of specific mitochondrial molecular chaperones and proteases promotes the destabilization of mtDNA and accumulation of deletions (21-27), which implies their role in preventing deletions formation. (hhs.gov)
  • 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)
  • Regulation of transcription factors via natural decoys in genomic DNA. (utmb.edu)
  • Download DNA or protein sequence, view genomic context and coordinates. (yeastgenome.org)
  • 13 uterine segments filled with eggs were observed ( Figure , panel C). We extracted genomic DNA from segments by using the DNeasy Blood &Tissue Kit (QIAGEN, Hilden, Germany) as recommended by the manufacturer. (cdc.gov)
  • This RD-PCR proved highly sensitive, detecting a single larval stage and as little as 0.78 ng of genomic DNA (gDNA) from an adult schistosome, providing a cost-effective, rapid and robust molecular tool for high-throughput screening of S. haematobium and S. bovis populations. (imperial.ac.uk)
  • On the other hand, the proportion of mutant DNA in non-RRF revealed a wider range than in RRF and the average was higher in MELAS patients (58.5+/-27.3%) than that in MDM patients (26.3+/-27.9%), which correlated with biochemical and morphological mitochondrial abnormalities in muscle. (nih.gov)
  • These results are in line with previous data and suggest that before the onset of myofiber necrosis, mitochondrial and metabolic abnormalities are present within the mdx mouse. (frontiersin.org)
  • Lamivudine is a rare cause of liver test abnormalities or clinically apparent liver injury in patients with HIV infection without hepatitis B. Although several instances of lactic acidosis with hepatic steatosis and liver failure have been reported in patients receiving lamivudine, in all instances other nucleoside analogues more clearly associated with mitochondrial injury [didanosine, stavudine, zalcitrabine, zidovudine] were also being taken. (nih.gov)
  • He discovered the cause of Alpers syndrome, and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. (wikipedia.org)
  • We examined the proportion of mutant DNA in muscle specimens at the cellular level using single fiber analysis in five patients with the 3243 mutation: three were diagnosed clinically as having MELAS and two had mitochondrial diabetes mellitus (MDM). (nih.gov)
  • A Conserved Structural Signature of the Homeobox Coding DNA in HOX genes. (utmb.edu)
  • In addition, using sequences of three mitochondrial genes, the phylogenetic relationships between every sample with a known karyotype were determined, which revealed significant nucleotide divergence among the karyomorphs. (scielo.br)
  • We search for disease genes in human sample materials, characterize disease phenotypes and set up DNA-based diagnosis, create disease models based on identified gene defects and utilize these models to study molecular pathogenesis and to test potential treatments. (helsinki.fi)
  • RNA-seq transcriptome evaluation coupled with qRT-PCR research evaluating NEK1 KO cells with NEK1 overexpressing cells revealed that the expression of genes concerned in DNA restore pathways, similar to base excision restore, nucleotide excision restore, and double-strand break restore, are altered in a means which may affect genotoxin resistance. (mitoproteins.org)
  • [ 11 ] In the CALERIE phase 1 study, however, we demonstrated that 6 months of 25% CR in healthy human s increased the expression of genes involved in mitochondrial biogenesis and mitochondrial DNA (mtDNA) copy number. (medscape.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)
  • Children under the age of two years and patients with mitochondrial disorders are at higher risk. (nih.gov)
  • Here, we show that persistent DNA damage accumulation in tissue-infiltrating macrophages carrying an ERCC1-XPF DNA repair defect ( Er1 F/− ) triggers Golgi dispersal, dilation of endoplasmic reticulum, autophagy and exosome biogenesis leading to the secretion of extracellular vesicles (EVs) in vivo and ex vivo. (nature.com)
  • Patients with glaucoma] with a low number of mtDNA copies per cell may be amenable to drug treatment targeting mitochondrial biogenesis and copy number increase to bolster the overall mitochondrial function. (ophthalmologytimes.com)
  • One study demonstrated that although lifelong CR preserved muscle mitochondrial function in mice, it did so by protecting the integrity and function of existing mitochondrial cellular components rather than by increasing biogenesis. (medscape.com)
  • DNA methylation patterns change dynamically during mammalian development and lineage specification, yet scarce information is available about how DNA methylation affects gene expression profiles upon differentiation. (cipsm.de)
  • A small amount of DNA can be amplified using the polymerase chain reaction (PCR) process, which can produce millions of copies of a gene or gene segments. (msdmanuals.com)
  • Overview of Genetics A gene, the basic unit of heredity, is a segment of DNA containing all the information necessary to synthesize a polypeptide (protein) or a functional RNA molecule. (msdmanuals.com)
  • Gene probes can be used to locate specific segments of normal or mutated DNA. (msdmanuals.com)
  • Remarkably, green fluorescent protein fusion proteins and immunofluorescence demonstrate that both are mitochondrial, but their locations with respect to the mitochondrial DNA (kinetoplast DNA network) in this organism are strikingly different. (neb.com)
  • Dengue Virus Nonstructural Protein 5 (NS5) Assembles into a Dimer with a Unique Methyltransferase and Polymerase Interface. (utmb.edu)
  • Thermodynamic Additivity for Impacts of Base-Pair Substitutions on Association of the Egr-1 Zinc-Finger Protein with DNA. (utmb.edu)
  • Changes in conformational dynamics of basic side chains upon protein-DNA association. (utmb.edu)
  • Stereospecific Effects of Oxygen-to-Sulfur Substitution in DNA Phosphate on Ion Pair Dynamics and Protein-DNA Affinity. (utmb.edu)
  • 2001). However, these methods are costly and/or time-consuming, are often defeated by thermal damage to protein and DNA, and are inappropriate for routine testing of the feed tonnage trade globally (Murray et al. (ac.be)
  • We report the crystal structure of an NH2-terminal 388-residue fragment of T4 DNA polymerase (protein N388) refined at 2.2 A resolution. (embl.de)
  • mtDNA damage was accompanied by changes in aortic mitochondrial glutathione and protein carbonyl levels. (cdc.gov)
  • The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. (medscape.com)
  • Reference: Trypanosoma brucei has two distinct mitochondrial DNA polymerase beta enzymes. (neb.com)
  • The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome. (medscape.com)
  • [ 12 ] The activity of key mitochondrial enzymes of the tricarboxylic acid cycle, β-oxidation, and the electron transport system, conversely, were unchanged, [ 12 ] leaving many unanswered questions regarding the effects of CR on muscle-specific mitochondrial function in humans. (medscape.com)
  • A thorough understanding of the molecular mechanisms that mediate these signals relates to various hereditary mitochondrial diseases, but also to neurodegenerative disease and various types of cancers. (umu.se)
  • The mechanisms of pathogenesis of mitochondrial diseases are unknown. (hhs.gov)
  • Fayssoil A. Heart diseases in mitochondrial encephalomyopathy, lactic acidosis, and stroke syndrome. (medscape.com)
  • Mitochondrial changes (content and function) are at the heart of a wide range of age-related diseases. (medscape.com)
  • Singmaneesakulchai S, Limotai N, Jagota P, Bhidayasiri R. Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). (medscape.com)
  • however, having a "more coupled" (versus "less coupled") phenotype enables CR-induced improvements in muscle mitochondrial function. (medscape.com)
  • Robert K. Naviaux (born in 1956) is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. (wikipedia.org)
  • DNA damage and metabolic disorders are intimately linked with premature disease onset but the underlying mechanisms remain poorly understood. (nature.com)
  • Mitochondrial disorders show a wide variation in individual disease severity and progression. (helsinki.fi)
  • Our research group focuses in clarifying the molecular basis of mitochondrial disorders, with a special emphasis on neurodegeneration. (helsinki.fi)
  • The specific focus of our group is the disorders involving mitochondrial DNA (mtDNA) maintenance. (helsinki.fi)
  • We and others have shown that both of these proteins are involved in a wide variety of dominantly and recessively inherited neurodegenerative disorders, such as MIRAS (mitochondrial recessive ataxia syndrome), Parkinsonism and childhood/juvenile onset epilepsies. (helsinki.fi)
  • The meeting was the third ENMC workshop devoted to disorders of mitochondrial DNA (mtDNA) maintenance. (enmc.org)
  • Bodily efficiency depends on mitochondrial integrity and declines with age, but the interactions between mtDNA amount, high quality, and bodily efficiency are unclear. (mitoproteins.org)
  • Regardless of the durability, the integrity of the DNA structure in teeth can still be disrupted when exposed to heat. (edu.au)
  • Serial dilution-polymerase chain reaction method was performed to estimate the proportion of the total mtDNA harboring the mtDNA4977-deletion. (astm.org)
  • The REPLI-g Mitochondrial DNA Kit is based on the multiple displacement amplification technology (MDA), that enriches for mitochondrial DNA with minimal contamination from nuclear DNA, thus avoiding the need for time-consuming isolation of mitochondrial DNA and increasing the sensitivity of downstream assays. (qiagen.com)
  • One limitation to the use of mitochondrial DNA has been the need to isolate it from nuclear DNA, particularly in cases where the sensitivity of mitochondrial DNA marker assays needs to be increased. (qiagen.com)
  • Naviaux received the 2023 United Mitochondrial Disease Foundation Vanguard Award. (wikipedia.org)
  • Problems with mitochondrial DNA can therefore lead to a cellular energy defect and mitochondrial disease. (umu.se)
  • ADP-ribosylation is a post-translational modification of proteins that occurs mostly in response to cellular stress and is catalysed by members of the diverse poly-ADP-ribose (PAR) polymerase (PARP/ARTD) family. (cipsm.de)
  • CELL PROLIFERATION, regulations of various immune and mitochondrial functions, and cellular stress responses. (bvsalud.org)
  • Our hope is that this assay could not only diagnose Parkinson's disease, but also identify drugs that reverse or halt mitochondrial DNA damage and the disease process. (medicalnewstoday.com)
  • In areas where human and cattle schistosomiasis overlap and are transmitted in close proximity, this mitochondrial assay will be a valuable identification tool for epidemiological studies, especially when used in conjunction with other nuclear diagnostic markers. (imperial.ac.uk)
  • Lamivudine is phosphorylated intracellularly to the triphosphate which competes with the naturally occurring cytidine triphosphate for incorporation into the growing HIV or HBV DNA chain by the viral polymerase, thereby inhibiting polymerase (or reverse transcriptase) activity and causing chain termination. (nih.gov)
  • Naviaux is the founder and co-director of the Mitochondrial and Metabolic Disease Center (MMDC) at UCSD and is a Professor of Genetics in the departments of Medicine, Pediatrics, and Pathology at the UCSD School of Medicine, where he directs a core laboratory for metabolomics. (wikipedia.org)
  • To generate greater student interest, we have developed an affordable practical lab ($16 dollars per student) where students extract and sequence their own mtDNA and use it for exercises involving phylogenetic reconstruction (placement of own DNA into the world tree), divergence (speciation) time (comparing current student population with chimps, gorillas, and Neanderthal), and population genetics (demographic change calculation based on student's sample). (biomedcentral.com)
  • Each lot of Taq DNA Polymerase is tested for PCR amplification and double-stranded sequencing. (sigmaaldrich.com)
  • Mitochondrial DNA (mtDNA) is a small circular double-stranded DNA molecule that contains information that is essential for efficient energy production. (umu.se)
  • I lead a research group that focuses on mitochondrial DNA and the molecular mechanisms that mediate the signaling of its instability. (umu.se)
  • The ultimate aim of our research group is to generate enough knowledge on the mitochondrial disease mechanisms to be able to create therapy. (helsinki.fi)
  • Aim: To elucidate the role of human Lon and ClpXP proteases, and the Hsp70/Hsp40 chaperone system in the elimination of the core mitochondrial DNA replisome. (hhs.gov)
  • Prominent mtDNA replisome stalling sites (34,35) correspond with binding sites of the major mitochondrial protease, Lon (36). (hhs.gov)
  • To counteract DNA damage, mammalian cells have evolved partially overlapping DNA repair systems to remove DNA lesions and restore their DNA back to its native form 1 , 2 . (nature.com)
  • The REPLI-g Mitochondrial DNA Kit overcomes this limitation by enriching for mitochondrial DNA sequences in total DNA samples. (qiagen.com)
  • Students had a 100% rate of success in obtaining DNA sequences and their evaluations report high satisfaction with the learning outcome. (biomedcentral.com)
  • Both proteins, when expressed recombinantly, are active as DNA polymerases and deoxyribose phosphate lyases, but their polymerase activity optima differ with respect to pH and KCl and MgCl2 concentrations. (neb.com)
  • This function is performed by DNA- directed DNA-polymerases ( EC 2.7.7.7 ) by adding nucleotide triphosphate (dNTP) residues to the 5'-end of the growing chain of DNA, using a complementary DNA chain as a template. (embl.de)
  • The tagged DNA binds to its complementary DNA segment and can be detected by measuring the amount and type of fluorescence. (msdmanuals.com)
  • Several methods have been developed to detect ruminant tissue in feeds including classical microscopy, polymerase chain reaction (PCR), immunological methods (Ansfield et al. (ac.be)
  • In a study published today in the journal Science Translational Medicine , researchers at Duke University in North Carolina used polymerase chain reaction (PCR) technology to detect mitochondrial DNA damage in blood cells typically associated with Parkinson's disease. (medicalnewstoday.com)
  • A single forward primer and two species-specific reverse primers were used to produce a polymerase chain reaction (PCR) fragment of 306 bp and 543 bp for S. bovis and S. haematobium, respectively. (imperial.ac.uk)
  • Even though there are 2 different methods of priming, these are mediated by 2 very similar polymerases classes, A and B, with similar methods of chain elongation. (embl.de)
  • In a subset of individuals, a muscle biopsy was performed for transcriptional profiling via quantitative reverse transcription polymerase chain reaction and microarrays. (medscape.com)
  • Crystal structures of an NH2-terminal fragment of T4 DNA polymerase and its complexes with single-stranded DNA and with divalent metal ions. (embl.de)
  • Heteroplasmy and mosaicism are therefore important determinants of mitochondrial disease pathophysiology. (biorxiv.org)
  • Scarpelli M, Zappini F, Filosto M, Russignan A, Tonin P, Tomelleri G. Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient. (medscape.com)
  • PrimPol was recently identified as a TLS primase and polymerase involved in DNA damage tolerance. (figshare.com)
  • Macrophage-derived EVs accumulate in Er1 F/− animal sera and are secreted in macrophage media after DNA damage. (nature.com)
  • Using mice with an engineered ERCC1-XPF defect in tissue-infiltrating macrophages, we provide evidence for a fundamental mechanism by which irreparable DNA damage triggers an exosome-based, metabolic reprogramming that leads to chronic inflammation and tissue pathology in NER progeroid syndromes and likely also during aging. (nature.com)
  • In this study, we detected aberrant mitochondrial morphology, reduced cristae number, and large mitochondrial vacuoles from both male and female mdx mice prior to the onset of muscle damage. (frontiersin.org)
  • Duke University researchers said DNA damage in blood cells can serve as an early warning of Parkinson's disease. (medicalnewstoday.com)
  • Together, these findings establish that PolDIP2 can regulate the TLS polymerase and primer extension activities of PrimPol, further enhancing our understanding of the roles of PolDIP2 and PrimPol in eukaryotic DNA damage tolerance. (figshare.com)
  • This, in turn, establishes chronic inflammation and tissue pathology in mice with important ramifications for DNA repair-deficient, progeroid syndromes and aging. (nature.com)
  • The REPLI-g Mitochondrial DNA Kit enables selective amplification of mitochondrial DNA from total DNA samples, without the need for prior mitochondrial DNA isolation. (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)
  • Endonuclease G (ENDOG) is a nuclear-encoded mitochondrial-localized nuclease. (mdpi.com)
  • The effects of caloric restriction (CR) on in vivo muscle mitochondrial function in humans are controversial. (medscape.com)
  • The isolation procedure involves many time-consuming steps and leads to substantial losses of mitochondrial DNA. (qiagen.com)
  • Total DNA preparations typically comprise approximately 0.1% of mitochondrial DNA (e.g., 0.1 ng of total human DNA contains 0.1 pg of mitochondrial DNA). (qiagen.com)
  • First, the total human DNA sample is denatured by incubation in REPLI-g mt Reaction Buffer and REPLI-g Human mt Primer Mix for 5 minutes at 75°C and then cooled to stop the denaturation. (qiagen.com)
  • 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)
  • Poor DNA quality can negatively affect the success of DNA analysis towards human identification. (edu.au)
  • NMR Scalar Couplings across Intermolecular Hydrogen Bonds between Zinc-Finger Histidine Side Chains and DNA Phosphate Groups. (utmb.edu)
  • PolDIP2 stimulates the polymerase activity of PrimPol, enhancing both its capacity to bind DNA and the processivity of the catalytic domain. (figshare.com)
  • The REPLI-g Mitochondrial DNA Kit is intended for molecular biology applications. (qiagen.com)
  • A DNA barcode sequence (GenBank accession no. (mapress.com)
  • Different types of probes may investigate a broad range of sizes of DNA sequence. (msdmanuals.com)
  • The aim of this study was to develop, refine and evaluate an alternative methodology, which enables better preservation of large numbers of individual schistosome larval stages and eggs collected in low resource endemic areas, to provide PCR-quality DNA for multi-locus genetic analysis. (imperial.ac.uk)
  • In this laboratory-teaching unit, students use their own DNA to place themselves in the humans of the world mtDNA phylogenetic tree (Fig. 1 ) and to deduce and find the geographic origin of their maternal lineage and to estimate population genetic parameters. (biomedcentral.com)
  • Taq polymerase catalyzes oligonucleotide primer-driven, DNA template dependent incorporation of dNTPs into complimentary DNA strands. (sigmaaldrich.com)