• Furthermore, we believe that these results could signal the potential for the accumulation of exon 51 skipped transcript and dystrophin protein in muscle tissue with repeated doses of PGN-EDO51 in people living with DMD. (tipranks.com)
  • METHODS We cotransfected neuronal (SK-N-SH, human neuroblastoma) and non-neuronal (COS-7, monkey kidney) cell lines with HD exon 1 (containing either 21 or 72 CAG repeats) construct DNA and either full length wild type huntingtin or pFLAG (control vector). (bmj.com)
  • RESULTS Full length wild type huntingtin significantly reduced cell death resulting from the mutant HD exon 1 fragments containing 72 CAG repeats in both cell lines. (bmj.com)
  • Wild type huntingtin did not significantly modulate cell death caused by transfection of HD exon 1 fragments containing 21 CAG repeats in either cell line. (bmj.com)
  • 35) in the first exon of the huntingtin ( HTT , IT15 ) gene 1 . (nature.com)
  • Exon 1 contains a CAG trinucleotide repeat that encodes the amino acid glutamine, followed by another repeat that encodes proline. (jci.org)
  • At the molecular level, HD occurs due to an increase in the number of CAG repeats in the first exon of the gene encoding the huntingtin protein. (frontiersin.org)
  • Huntington disease (HD) is an inherited neurodegenerative disorder characterized by motor and cognitive dysfunction caused by expansion of polyglutamine (polyQ) repeat in exon 1 of huntingtin (HTT). (en-journal.org)
  • The cause of this fatal disease is an aberrant expansion of CAG trinucleotide in the exon 1 of HTT gene, translating into a polyglutamine tract (polyQ) at the N-terminus, and conferring gain-of-function and loss-of-function to wild type huntingtin protein. (biomedcentral.com)
  • INTRODUCTION - Diagnosis and treatment of progressive cognitive impairment in the younger adult requires a different approach than that of the older adult. (medilib.ir)
  • A more general approach to adults with cognitive impairment or dementia and disease-specific diagnosis and management are presented elsewhere. (medilib.ir)
  • See "Evaluation of cognitive impairment and dementia" . (medilib.ir)
  • According to the DSM-5, dementia is defined as significant acquired cognitive impairment in one or more cognitive domains (eg, learning and memory, language, executive function, complex attention, perceptual-motor function, social cognition) that represents a significant decline from previous baseline and interferes with independence in daily activities ( table 1 ) [ 1 ]. (medilib.ir)
  • See "Evaluation of cognitive impairment and dementia", section on 'Criteria for dementia' . (medilib.ir)
  • The remaining 45 percent of patients had the following etiologies: vascular-related cognitive change, alcohol-related cognitive change, Huntington disease (HD), cognitive impairment resulting from multiple sclerosis (MS), prion diseases, dementia related to Down syndrome (predominantly AD), and unknown/unclassified. (medilib.ir)
  • Mitochondrial dysfunction, altered miRNA expression, endocrine system failure, and impairment of the GABAergic transmission are some of the affectations that are susceptible to be tracked using peripheral blood for monitoring of the motor, cognitive, psychiatric and reproductive impairment of the CGG-expansion carriers. (bvsalud.org)
  • It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). (biomedcentral.com)
  • The decision to rescreen a patient should be undertaken only with the guidance of a genetics professional who can best assess the incremental benefit of repeat testing for additional mutations. (acog.org)
  • We were interested to test if wild type huntingtin protected against the toxicity of polyglutamine expansion mutations. (bmj.com)
  • In humans, mutations affecting the genes of this family are associated with specific diseases. (sdbonline.org)
  • 21 allelic mutations have been discovered in the APP gene. (findzebra.com)
  • other mutations involving the FMR1 gene can cause FXS if they prevent production or alter functional domains of the encoded protein, the fragile X mental retardation protein (FMRP) ( O'Donnell and Warren, 2002 ). (jneurosci.org)
  • Genetic disorders result from new or inherited gene mutations . (amboss.com)
  • We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
  • The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
  • Mutations affecting these genes leads to a higher risk of developing breast and/or ovarian cancer. (frontlinegenomics.com)
  • Mutations of the CFTR gene result in cystic fibrosis which leads to thickened mucus in the lungs and frequent respiratory infections. (frontlinegenomics.com)
  • Fragile X cases have more than 200 repeats of the trinucleotide CGG at a fragile locus of the X chromosome (Xq27.3) which affords the basis of the molecular diagnosis of the syndrome. (omicsonline.org)
  • It is caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin ( HTT ) gene on chromosome 4, which is responsible for the expression of the protein huntingtin ( Nance, 2017 ). (frontiersin.org)
  • Etiology HCHWA-D is due to a mutation in the APP gene on chromosome 21q21.2, encoding the beta-amyloid precursor protein. (findzebra.com)
  • Huntington disease (HD) is associated with an excessive sequence of CAG repeats in the 5' end of HTT (alias IT15- interesting transcript number 15), a 350-kD gene located on the short arm of chromosome 4. (medscape.com)
  • All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
  • Huntington's disease (HD) is an autosomal dominant disorder caused by an expanded CAG repeat (greater than 38) on the short arm of chromosome 4, resulting in loss and dysfunction of neurons in the neostriatum and cortex, leading to cognitive decline, motor dysfunction, and death, typically occurring 15 to 20 years after the onset of motor symptoms. (biomedcentral.com)
  • The underlying pathology of HD is initiated when the gene that codes for the huntingtin (htt) protein, located on the short arm of chromosome 4, contains an increased number of CAG repeats [ 1 ]. (biomedcentral.com)
  • We will examine how gene silencing can reduce production of the mutant huntingtin protein that causes HD, thereby preventing dysfunction and death in neurons in animal models of HD and in HD neurons in culture. (grantome.com)
  • HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor, psychiatric, and cognitive dysfunction. (jci.org)
  • Huntington's disease (HD) is a severe neurodegenerative pathology characterized by motor dysfunction, cognitive decline and the presence of mental disorders. (frontiersin.org)
  • While this definition recognizes multiple different cognitive domains, a decline in memory is one of the earliest and most prominent features of Alzheimer disease (AD) dementia and most other forms of dementia. (medilib.ir)
  • As the technology evolves and test costs decline, whole genome sequencing (WGS), which can assess genetic sequences of nuclear and mitochondrial DNA and copy number variants (CNVs), or whole exome sequencing (WES), which can assess genetic sequences of the coding region of nuclear genes, but usually does not cover mitochondrial DNA and does not consistently identify CNVs, in combination with CMA, may become first-line testing for these conditions. (arupconsult.com)
  • Clinically, the disease is characterized by complex and variable symptoms that include movement disorders, psychiatric problems and cognitive decline 2 . (nature.com)
  • In all cases, age at onset correlates inversely with repeat number. (bmj.com)
  • In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
  • The age of onset of the disease varies inversely with the number of CAG repeats. (jci.org)
  • Individuals with juvenile onset usually have over 55 repeats, and they usually inherit the gene from their father. (jci.org)
  • These guarantee onset of early-onset familial Alzheimer disease and all occur in the region of the APP gene that encodes the Aβ domain. (findzebra.com)
  • Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
  • Huntington's disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. (benthamscience.com)
  • One of the most common causes of genetic neurodegeneration is expansion of short repetitive DNA sequences, for example CAG trinucleotide repeats. (biologie-uni-siegen.de)
  • Genetic testing revealed 43 CAG repeats in the HD gene. (medscape.com)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • The huntingtin gene encodes a protein of 350 kD;the disease causing mutation is an expansion of an amino-terminal polyglutamine repeat of more than 36 successive glutamines. (grantome.com)
  • The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Huntingtin. (benthamscience.com)
  • The causative mutation is a (CAG) n trinucleotide repeat expansion of more than 35 repeats, which is translated into an abnormally long polyglutamine tract in the huntingtin protein. (bmj.com)
  • Possibly, the abnormal huntingtin protein undergoes proteolysis and is then transported to the nucleus, where it undergoes aggregation. (medscape.com)
  • Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. (frontiersin.org)
  • Nucleotide excision repair proteins are mobilized to this area where one likely outcome is the expansion of nucleotides in the template strand while the other is the absence of nucleotides. (wikipedia.org)
  • If these repeats are found in coding regions then the variations to the polynucleotide sequence can result in the formation of abnormal proteins in eukaryotes. (wikipedia.org)
  • When translated into protein the CAG repeat encodes for a polyglutamine stretch in the disease-causing proteins. (biologie-uni-siegen.de)
  • In our studies we have identified a set of proteins that aberrantly bind to mutant CAG repeats. (biologie-uni-siegen.de)
  • This abnormal binding can lead to both: a loss of physiological function of the RNA-binding proteins and a gain of function of these proteins at the mutant CAG repeat RNA. (biologie-uni-siegen.de)
  • proteinopathic adj ), or proteopathy , protein conformational disorder , or protein misfolding disease , is a class of diseases in which certain proteins become structurally abnormal, and thereby disrupt the function of cells , tissues and organs of the body. (wikipedia.org)
  • For example, cystic fibrosis is caused by a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein, [3] and in amyotrophic lateral sclerosis / frontotemporal lobar degeneration (FTLD), certain gene-regulating proteins inappropriately aggregate in the cytoplasm, and thus are unable to perform their normal tasks within the nucleus. (wikipedia.org)
  • For example, proteins that are normally unfolded or relatively unstable as monomers (that is, as single, unbound protein molecules) are more likely to misfold into an abnormal conformation. (wikipedia.org)
  • The abnormal aggregation and accumulation of specific proteins in the form of cytoplasmic inclusion is common pathological feature of most age-related neurodegenerative diseases, such as Alzheimer disease (AD), Parkinson disease (PD), Huntington disease (HD) and amyotrophic lateral sclerosis (ALS). (en-journal.org)
  • Huntington's disease (HD) is an autosomal dominant neurodegenerative condition associated with abnormal movements, cognitive deterioration, and psychiatric symptoms. (bmj.com)
  • Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive atrophy of specific brain areas with consequent alterations of motor and cognitive functions, including psychiatric disturbances, weight loss, as well as metabolic, neuroendocrine and immunological alterations [ 1 - 3 ]. (biomedcentral.com)
  • Huntington disease (HD) is a rare, autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG repeat sequence in the Huntingtin ( HTT ) gene. (biomedcentral.com)
  • Huntington's disease (HD) is the most prevalent autosomal dominant, trinucleotide repeat neurodegenerative disease. (grantome.com)
  • In fact, we know that in people with other diseases that involve the striatum such as Parkinson's disease, these symptoms are related to abnormal reward signals in the striatum. (hdsa.org)
  • The so-called CAG repeat diseases are characterized by symptoms such as the progressive loss of cognitive abilities and progressive movement disorders. (biologie-uni-siegen.de)
  • In this study, mesenchymal stem cells isolated from the bone-marrow of mice (BM MSCs), were labeled with Hoechst after low (3 to 8) or high (40 to 50) numbers of passages and then transplanted intrastriatally into 5-week-old R6/2 mice, which carries the N-terminal fragment of the human HD gene (145 to 155 repeats) and rapidly develops symptoms analogous to the human form of the disease. (biomedcentral.com)
  • Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
  • It is a form of mutation that leads to either a trinucleotide or dinucleotide expansion, or sometimes contraction, during DNA replication. (wikipedia.org)
  • Although trinucleotide contraction is possible, trinucleotide expansion occurs more frequently. (wikipedia.org)
  • Are capable of sensing contraction and expansion of ECF volume. (abcmedicalnotes.com)
  • Patients with Huntington's disease (HD) develop cognitive deficits, depression and movement abnormalities. (grantome.com)
  • Ophthalmologic findings of AD include visual field deficits, decreased contrast sensitivity, impaired oculomotor function, and abnormal viewing behavior. (aao.org)
  • The scope is to evaluate if the new acquisitions may change the rehabilitation approaches to schizophrenia modifying the balance about the neurodevelopmental hypothesis of schizophrenia accepting that the cognitive deficits are produced by errors during the normal development of the brain (neurodevelopmental hypothesis) that remains stable in the course of illness and the neurodegenerative hypothesis according of which they derived from a degenerative process that goes on inexorably. (clinical-practice-and-epidemiology-in-mental-health.com)
  • Coping of cognitive deficits in schizophrenia may represents the starting-point for further research on schizophrenia, cohort studies and randomized trials are necessary to defined the range of effectiveness and the outcome of the treatments. (clinical-practice-and-epidemiology-in-mental-health.com)
  • Huntington disease is normally progressive and results in movement, cognitive and psychiatric disorders. (wikipedia.org)
  • [ 1 ] Under the current Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) , dementia is considered a major neurocognitive disorder, in which a deficit in cognitive functioning is acquired rather than developmental. (medscape.com)
  • Abnormal trinucleotide expansions cause rare disorders that compromise quality of life and, in some cases, lifespan. (bvsalud.org)
  • Although each of the CAG repeat expansion disorders is rare, together they represent one of the most common forms of inherited neurodegeneration. (biologie-uni-siegen.de)
  • HD supposedly can cause psychiatric disorders in 2 ways: (1) by the direct action of the gene on striatal neurons, and (2) by the indirect effect of the disordered family environment on the children, regardless of whether they inherited the HD gene. (medscape.com)
  • Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
  • Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
  • Within DNA trinucleotide repeat sequences, the repair of DNA damage by the processes of homologous recombination, non-homologous end joining, DNA mismatch repair or base excision repair may involve strand slippage mispairing leading to trinucleotide repeat expansion when the repair is completed. (wikipedia.org)
  • Genomic regions with a high proportion of repeated DNA sequences (tandem repeats, microsatellites) are prone to strand slippage during DNA replication and DNA repair. (wikipedia.org)
  • These results suggest that transcriptional elongation control is especially important for rapidly expressed genes to support digestion and metabolism, many of which have sex-biased function. (sdbonline.org)
  • Transcriptional dysregulation is considered a key molecular mechanism responsible of HD pathogenesis but, although numerous studies investigated mRNA alterations in HD, so far none evaluated a whole gene expression profile in blood of R6/2 mouse model. (biomedcentral.com)
  • An individual who is not affected by Huntington's disease will have 6-35 tandem repeats at the HD locus. (wikipedia.org)
  • The expansion of the HD locus results in a dysfunctional protein leading to Huntington's disease. (wikipedia.org)
  • The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
  • Huntington Disease (HD) is a hereditary neurological disorder that shows a gene expansion associated with trinucleotide repeats. (medicalalgorithms.com)
  • Polyglutamine expansion =} Huntington accumulates in nucleus and cytoplasm =} cytoplasmic Huntington aggregates in axonal terminals, neuronal loss and gliosis. (neuroradiologycases.com)
  • Structurally, mutant CAG repeat RNA differs from the physiological RNA: the expanded CAG repeats fold into characteristic hairpin structures. (biologie-uni-siegen.de)
  • It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
  • A slippage event normally occurs when a sequence of repetitive nucleotides (tandem repeats) are found at the site of replication. (wikipedia.org)
  • For example, insertion of a single repeat unit in GAGAGA expands the sequence to GAGAGAGA, while insertion of two repeat units in [GA]6 would produce [GA]8. (wikipedia.org)
  • Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
  • Many human diseases have been reported to be associated with trinucleotide repeat expansions including Huntington's disease. (wikipedia.org)
  • Mutant Huntingtin is the cause of the complex neurological metabolic alteration of Huntington's disease, resulting in both the loss of all the functions of normal Huntingtin and the genesis of abnormal interactions due to the presence of this mutation. (benthamscience.com)
  • Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
  • Huntington's disease (HD) is caused by expansion of polyglutamine repeats in the protein huntingtin, which affects the corpus striatum of the brain. (encyclopedia.pub)
  • Huntington's disease (HD) is an autosomal dominant disorder caused by an expanded and unstable CAG trinucleotide repeat that results in a progressive degeneration of neurons, primarily in the putamen, caudate nucleus, and cerebral cortex. (biomedcentral.com)
  • A prominent exception is frontotemporal dementia (FTD), in which memory may be relatively preserved in relation to other cognitive domains such as language function or social cognition, at least initially. (medilib.ir)
  • Expansion of polyQ increases the propensity for HTT protein aggregation, process known to be implicated in neurodegeneration. (en-journal.org)
  • Tandem repeats are unstable regions of the genome where frequent insertions and deletions of nucleotides can take place, resulting in genome rearrangements. (wikipedia.org)
  • These include spinal and bulbar muscular atrophy ( trinucleotide expansion in the AR gene), dentatorubral-pallidoluysian atrophy ( trinucleotide expansion in the DRPLA gene), spinocerebellar ataxia type 1 ( trinucleotide expansion in the SCA1gene), Machado-Joseph disease ( trinucleotide expansion in the SCA3 gene), myotonic dystrophy ( trinucleotide expansion in the DMPK gene), and Friedreich's ataxia ( a trinuncleotide expansion in the X25 gene). (wikipedia.org)
  • HD is a member of a family of neurodegenerative diseases caused by CAG/polyglutamine expansions, which include spinobulbar muscular atrophy (SBMA), spinocerebellar ataxias (SCA) types 1, 2, 3, 6, and 7, and dentatorubral-pallidoluysian atrophy. (bmj.com)
  • However, comparing the HD76 neurons with the previously described low-repeat HD models, we have demonstrated that the severity of calcium signaling alterations does not depend on the length of the polyglutamine tract of the mutant huntingtin. (frontiersin.org)
  • Because HD is an inherited disease, we expected that the mutant allele will differ from wild-type by at least a single nucleotide polymorphism, thereby offering a target for gene silencing by RNAi. (grantome.com)
  • For example, we have identified a protein complex, which binds to and induces aberrant translation of mRNAs containing mutant CAG repeats. (biologie-uni-siegen.de)
  • 2 The polyglutamine expansion mutation causes disease by conferring a novel deleterious function on the mutant protein and the severity correlates with increasing CAG repeat number and expression levels in transgenic mice and in cell culture models. (bmj.com)
  • These mutant phenotypes correlate with markedly reduced expression of the early zygotic genes serendipity alpha , fushi tarazu and huckebein , which are essential for cellularization and embryonic patterning (Tang, 2001). (sdbonline.org)
  • The polyglutamine repeats in mutant huntingtin cause its aggregation and elicit toxicity by affecting several cellular processes, which include dysregulated organellar stress responses. (encyclopedia.pub)
  • This proposal addresses treatment of HD through study of basic mechanisms of silencing the gene that causes the disease. (grantome.com)
  • One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
  • Selected genes derived from these pathways were additionally investigated in other accessible tissues to validate these matrices as source of biomarkers, and in brain, to link central and peripheral disease manifestations. (biomedcentral.com)
  • An expansion of 36 or more CAGs can lead to the disease, with earlier onsets associated with longer CAG repeats. (biomedcentral.com)
  • Aim 1 examines in vivo in mice whether allele specific silencing can delay or prevent HD neuropathy and abnormal behaviors. (grantome.com)
  • Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
  • In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
  • CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
  • ASDs are typically detected by 3 years of age based on parents' and observers' identification of abnormal interactions and behaviors. (arupconsult.com)
  • A common approach to differential diagnosis, including consideration of rare diseases, should be followed regardless of the age of the younger adult with new cognitive change. (medilib.ir)
  • The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)
  • Almost half of the genes expressed in adults showed reduced expression, supporting a broad role for the three tested genes in steady-state transcript abundance. (sdbonline.org)
  • A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
  • Aneuploidy refers to the presence of an abnormal number of chromosomes in a cell. (frontlinegenomics.com)
  • A candidate gene is a gene located within a chromosomal region that is suspected of being involved in a given trait or function. (frontlinegenomics.com)
  • His motor and cognitive function deteriorated over several years following diagnosis. (medscape.com)
  • Innovations include targeting mRNA alleles for RNAi, use of HD mouse models that express only human huntingtin genes, quantitative measurement of huntingtin allelic mRNA based on SNP heterozygosities, deep sequencing analysis to identify 3 UTR huntingtin mRNA regulation, and zinc finger nuclease strategy to eliminate huntingtin alleles at the genomic level. (grantome.com)
  • 2) lilli mutation strongly suppresses the rough eye phenotype of ectopically expressed phyllopod (Tang, 2001), and (3) lilli was identified in a screen for genes that enhance the embryonic lethal phenotype of dpp alleles (Su, 2001). (sdbonline.org)
  • In a population of 250 individuals , there will be a total of 500 gene copies (all individuals carry two alleles of a gene ). (amboss.com)
  • We will identify abnormal eye-movements that may indicate the presence and severity of HD. (hdsa.org)
  • however, neuritic plaque burden does not correlate well with cognitive status during life. (medscape.com)
  • In long repeats, expansions may involve two or more units. (wikipedia.org)
  • Courses deal with cognitive, physical, therapeutic, technological and legal HD issues among other topics. (hdsa.org)
  • A global DD diagnosis often precedes a diagnosis of ID because neither cognitive skill nor IQ can be reliably assessed before age 6. (arupconsult.com)
  • In unaffected individuals, there are 10-34 CAG repeats. (jci.org)
  • 2] Healthy individuals may have between 9 and 35 CAG repeats, while patients diagnosed with HD, as well as carriers, have an abnormal expansion accommodating 36 or more CAG repeats. (medscape.com)
  • The R6/2 mouse model of HD expresses the N-terminal portion of human htt, containing a highly expanded glutamine repeat (145 to 155). (biomedcentral.com)
  • Genes showing reduced expression due to these RNAi treatments were short and enriched for genes encoding metabolic or enzymatic functions. (sdbonline.org)
  • Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
  • Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)