Known as trinucleotide autosomal dominant gene contains trinucleotide repeat expansion. Medical search. Frequent questions

A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. (wikipedia.org)
YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (icd9data.com)
Type 2 DM (DM2) is milder and involves a CCTG repeat expansion mutation of the cellular nucleic acid binding protein gene CNBP (previously known as ZFN9) on chromosome 3q21.3. (msdmanuals.com)
An example of a genetic mutation that shows anticipation is Huntington disease, where an expansion of the trinucleo-tide repeat, CAG, leads to earlier expression of the disease in affected offspring. (brainkart.com)
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 underlying defect is a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9 with 90% of those studied being homozygous for expanded alleles and over half of the remaining patients being compound heterozygotes, carrying one allele with a repeat expansion and the other with a point mutation. (bmj.com)
Dominant negative mutations (where mutation on one copy renders the other copy inactive) are involved in osteogenesis imperfecta type I and autosomal dominant nephrogenic diabetes insidipus . (dorak.info)
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. (nature.com)
Huntington's disease (HD) is a severe autosomal-dominant neurodegenerative disorder caused by a mutation within a gene, encoding huntingtin protein. (frontiersin.org)
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)
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)
2005) identified a mutation in the APP gene (104760.0019). (findzebra.com)
This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
HDL syndromes occur in people with the characteristic features of Huntington's disease who do not have a variant (also called mutation) in the gene typically associated with that disorder. (medlineplus.gov)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
For instance, if you've got a mutation caused by triplet repeat expansion, for instance in the Huntington's gene, where the trinucleotide repeats a CAG, you might have 17 CAGs in a normal chromosome. (hstalks.com)
Some occur in the coding region of the gene, others occur in the five prime region and others occur in the three prime region, and these have different consequences on the function of the gene and the results of the mutation. (hstalks.com)
This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. (uchicago.edu)

As with many neurodegenerative diseases, both rare autosomal-dominant forms of AD and more common sporadic forms with genetic risk factors without causative mutations exist. (medscape.com)
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (cdc.gov)
Genetic disorders result from new or inherited gene mutations . (amboss.com)
An autosomal recessive inherited disorder caused by mutations in the fxn gene. (icd9data.com)
Spontaneous mutations in the genes for Fuchs' dystrophy also can cause new Fuchs' dystrophy in a person with no family history. (eyewiki.org)
An early-onset form of Fuchs' dystrophy is caused by mutations in the COL8A2 gene [11] and is associated with formation of bullous keratopathy, or corneal blisters, within the first few decades of life. (eyewiki.org)
[13] The pattern of inheritance of such mutations appears to be autosomal dominant with a relatively equal distribution between men and women. (eyewiki.org)
We were interested to test if wild type huntingtin protected against the toxicity of polyglutamine expansion mutations. (bmj.com)
Which subtype of autosomal recessive ataxia is characterized by the absence of cerebellar Purkinje cells and is caused by mutations in the gene that encodes a protein involved in the transport of copper? (neurologylive.com)
21 allelic mutations have been discovered in the APP gene. (findzebra.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)
What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)

During the decade after evidence that linked TNR to onset of disease was found, focus was placed on studying repeat length and dynamics on diseases, as well as investigating the mechanism behind parent-child disease inheritance. (wikipedia.org)
Hereditary disorders are passed down from parent to offspring via different patterns of inheritance, including autosomal dominant , autosomal recessive , X-linked , and mitochondrial inheritance . (amboss.com)
Inheritance patterns include autosomal dominant, autosomal recessive, and x-linked. (icd9data.com)
Examples of genetic disorders with autosomal dominant inheritance include Marfan syndrome, achondroplasia, and Hunting-ton disease. (brainkart.com)
It can show autosomal dominant or recessive inheritance. (nih.gov)

The number of trinucleotide repeats appears to predict the progression, severity, and age of onset of Huntington's disease and similar trinucleotide repeat disorders. (wikipedia.org)
In 1993, for Huntington's disease (HD), a longer-than-usual CAG repeat with was found in the exon 1 coding sequence. (wikipedia.org)
Huntington's Disease (HD) is an autosomal dominant genetic disease that results in progressive neurodegeneration. (frontiersin.org)
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (cdc.gov)
Huntington's disease is genetic , involving the Huntingtin (HTT) gene. (medicalnewstoday.com)
Furthermore, Huntington's disease is an autosomal dominant disorder . (medicalnewstoday.com)
When someone with Huntington's disease has children, each child has a 1 in 2 chance of inheriting the mutated gene and developing the disease. (medicalnewstoday.com)
REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
Huntington's disease (HD) is the most prevalent autosomal dominant, trinucleotide repeat neurodegenerative disease. (grantome.com)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (nature.com)
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. (nature.com)
Inactivation of the mouse Huntington's disease gene homolog hdh . (nature.com)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. (nature.com)
Trottier, Y., Biancalana, V. & Mandel, J.L. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (nature.com)
Huntington's Disease (HD) is an autosomal dominant, progressive neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations, which usually manifests at around 40 to 50 years of age. (upmc.com)
Individuals with a CAG repeat size of 30 to 35 do not manifest Huntington's Disease themselves, however, the risk that their offspring will develop HD may be increased, particularly from paternal transmission of the gene. (upmc.com)
Detection of CAG expansions in the HTT gene that lead to Huntington's Disease. (upmc.com)
Huntington's disease (HD) is an autosomal dominant neurodegenerative condition associated with abnormal movements, cognitive deterioration, and psychiatric symptoms. (bmj.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)
Other medical conditions and gene variant may also cause signs and symptoms resembling Huntington's disease. (medlineplus.gov)
Huntington's disease (HD) is an autosomal dominant inherited disorder belonging to the group of systemic brain atrophies. (hindawi.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)
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)

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)
The expansion of the cytosine-adenine-guanine (CAG) trinucleotide in the HTT gene leads to the production of atypical protein. (medicalnewstoday.com)

What is the most common form of autosomal dominant cerebellar ataxia characterized by a notable anticipation phenomenon, where symptoms tend to start at an earlier age and are more severe in successive generations? (neurologylive.com)

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)
Exon 1 contains a CAG trinucleotide repeat that encodes the amino acid glutamine, followed by another repeat that encodes proline. (jci.org)
HTT is the gene implicated in HD and contains a normally polymorphic trinucleotide CAG repeat region in the first exon. (upmc.com)
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)
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)
The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
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)

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. (cdc.gov)

because of this, it took almost 200 years for a link between onset of disease and trinucleotide repeats (TNR) to be acknowledged. (wikipedia.org)
Currently, CAG repeat length is considered the biggest onset age modifier for TNR diseases. (wikipedia.org)
The higher the number of CAG repeats, the earlier the age of onset and the greater the severity of the disease. (medicalnewstoday.com)
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. (icd9data.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)
In all cases, age at onset correlates inversely with repeat number. (bmj.com)
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)
The average age of onset is around 40 years old (Vonsattel et al, 1985) but could be earlier depending on the number of repeats. (edubirdie.com)
Mutant form of huntingtin (mhtt) comprises up to 40 repeats and individuals with 36-39 CAG repeats are in risk of developing adult (late-onset) form of HD. (hindawi.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)
2014). Although this study aims to find therapeutic benefit through nonallele-specific silencing of both the mutant and wild type huntingtin gene which codes for the huntingtin protein, it has been noted that the effects of nonallelle-specific silencing of the mutant htt still remains unknown. (edubirdie.com)

In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
Andrew, S.E., Goldberg, Y.P. & Hayden, M.R. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. (nature.com)
Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
Prior to the development of massively parallel sequencing (also known as next-generation sequencing ), the only cost-effective way to test more than one gene was serial single-gene testing (i.e., complete testing of one gene that might account for the phenotype before proceeding to testing of the next gene) ‒ an expensive and time-consuming approach with a potentially low yield. (nih.gov)
These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)

Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. (wikipedia.org)
DNA analysis was negative for the autosomal dominant spinocerebellar ataxia genes of types 1, 2, 3, and 6. (bmj.com)
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)
Spinocerebellar Ataxia type 3, also known as Machado-Joseph disease, is caused by the expansion of a repeated DNA sequence within a specific gene. (neurologylive.com)
Variants in the TBP gene are responsible for HDL4 (also known as spinocerebellar ataxia type 17). (medlineplus.gov)

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 an autosomal dominant neurodegenerative disease affecting 4-to-7 per 100,000 individuals. (edubirdie.com)

It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)

Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein 1 . (nature.com)

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)
[1] Affected individuals have at least a 50% chance of passing the gene on to their children. (eyewiki.org)
Individuals with one dominant allele for a disorder (described as being heterozygous for the gene) will express disease and trans-mit the gene to 50% of their offspring (Box 7.1). (brainkart.com)
In unaffected individuals, there are 10-34 CAG repeats. (jci.org)
Normal individuals have between 6 and 35 copies of this repeat. (upmc.com)
Affected individuals have an expanded repeat region, usually 36 to 121 copies of the repeat. (upmc.com)
Variants in the PRNP , JPH3 , and TBP genes have been found to cause the signs and symptoms in some of these individuals. (medlineplus.gov)

OBJECTIVES Recent data suggest that wild type huntingtin can protect against apoptosis in the testis of mice expressing full length huntingtin transgenes with expanded CAG repeats. (bmj.com)

The considered normal alleles have less than 27 CAG repeats. (geneticsmr.com)
Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.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)
At each locus, there are two possible variations of the genes, or two alleles. (brainkart.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)
DNA analysis of the FRATAXIN gene in the patient showed that the GAA expansion was present in one allele but not the other, while her mother was negative for the GAA expansion in both alleles. (bmj.com)

If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
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)

Autosomal-dominant forms of AD tend to be more severe and occur at a younger age than sporadic AD, but these are relatively rare. (medscape.com)
The neuropathologic changes of autosomal-dominant and sporadic AD are largely the same. (medscape.com)
Fuchs' endothelial dystrophy is a non-inflammatory, sporadic or autosomal dominant, dystrophy involving the endothelial layer of the cornea. (eyewiki.org)

n engl j med 1996 oct 17;335(16):1169-75) the severity of friedreich ataxia associated with expansion of gaa repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (icd9data.com)
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. (bmj.com)
Ataxia-telengiectasia - autosomal dominant , click HERE for a video of the nystagmus seen in this disorder. (uchicago.edu)

In addition to occurring during DNA replication, trinucleotide repeat expansion can also occur during DNA repair. (wikipedia.org)
Each of these processes involves a DNA synthesis step in which strand slippage might occur leading to trinucleotide repeat expansion. (wikipedia.org)
The expansion is thought to occur via slippage during the DNA replication process. (jci.org)
The normal number of CAG repeats is 10-35 times, however, in HD this repeat will occur 36 times or more and as CAG codes for glutamine, HD is classified as a polyglutamine disease. (edubirdie.com)
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. (lookformedical.com)

In 1992, for myotonic dystrophy type 1 (DM1), CTG expansion was found in the myotonic dystrophy protein kinase (DMPK) 3' UTR. (wikipedia.org)
It is a monogenic, autosomal dominant disease caused by an abnormal trinucleotide expansion in a region of the DMPK gene. (tmcnet.com)
Type 1 DM (DM1) involves expansion of a CTG trinucleotide repeat of the DMPK gene located on chromosome 19. (msdmanuals.com)

This variant increases the length of a repeated segment of DNA within the gene, which leads to the production of an abnormal PRNP, JPH3, or TBP protein. (medlineplus.gov)
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)

Generally, the larger the expansion the more likely they are to cause disease or increase the severity of disease. (wikipedia.org)
The penetrance of the CAG expansion is not complete, therefore showing variability in the severity of disease symptoms. (upmc.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)

Myotonic dystrophy is nucleotide repeat expansion disorder in which type 1 (DM1) is due to a trinucleotide repeat expansion on chromosome 19 and type 2 (DM2) arises from a tetranucleotide repeat expansion on chromosome 3. (jci.org)

Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
Myotonic dystrophy (DM) is the most common autosomal dominant muscular dystrophy and encompasses both skeletal muscle and cardiac complications. (jci.org)
Developing representative models of myotonic dystrophy in animals has been challenging due to instability of nucleotide repeat expansions, especially for DM2 which is characterized by nucleotide repeat expansions often greater than 5000 copies. (jci.org)

This means that a change in only one of a person's two copies of the HTT gene can cause the disease. (medicalnewstoday.com)
Knock in mice models have more precise portrayal of the disease`s genotype as scientists are able to replace specific gene regions of the HD gene with human copies. (edubirdie.com)
which means both copies of the gene in each cell must have a variant to cause the disorder. (medlineplus.gov)
But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)

Phenotypic expression of autosomal dominant genes is not always straightforward and may vary depending on specific characteristics of the gene. (brainkart.com)

the detection of various repeats within these diseases demonstrated this relationship. (wikipedia.org)
Today I'm going to tell you about microsatellites, and trinucleotide repeat expansions diseases. (hstalks.com)

it results from expansion of polyglutamine repeats in the protein huntingtin [ 1 ] . (encyclopedia.pub)
Lately, in 1993, gene IT15 (interesting transcript 15), which codes unstable protein huntingtin (htt) comprising variable number of CAG repeats, was identified [ 5 ]. (hindawi.com)

HDL1 is caused by variants in the PRNP gene, while HDL2 results from variants in JPH3 . (medlineplus.gov)
The PRNP , JPH3 , and TBP genes provide instructions for making proteins that are important for normal brain function. (medlineplus.gov)

Huntington Disease (HD) is a hereditary neurological disorder that shows a gene expansion associated with trinucleotide repeats. (medicalalgorithms.com)
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (nature.com)
In about one percent of people with the characteristic features of Huntington disease, no variants in the HTT gene has been identified. (medlineplus.gov)

A longer repeat segment is often associated with more severe signs and symptoms that appear earlier in life. (medlineplus.gov)
The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
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)

The huntingtin gene which regulates brain-derived neurotrophic factor (BDNF) that promotes the survival of neurons in the brain is affected (Zuccato et al, 2010). (edubirdie.com)
The loss of small neurons will also cause the expansion of the lateral ventricles and this can lead to psychological problems such as dementia, personality changes and depression. (edubirdie.com)

Mouse HD genes are 81% in similarity to that of the human HD gene when expressed at DNA level (Liou, 2010). (edubirdie.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)

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. (lookformedical.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)
Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)

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)

With increasing repeat number, the protein changes conformation and becomes increasingly prone to aggregation 11 , suggesting important functional correlations between repeat length and pathology. (nature.com)

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
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)

Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

[5] By collaborating together, this approach garnered the statistical power to discern that, while the TCF4 genetic variant demonstrated the strongest association, three additional chromosomal loci each significantly contributed to risk of disease, located at the KANK4 , LAMC1 and LINC00970/ATP1B1 genes. (eyewiki.org)

This expansion of CTG repeats causes toxic RNA to cluster in the nucleus, forming nuclear foci and altering the splicing of multiple proteins essential for normal cellular function. (tmcnet.com)

Fuchs' dystrophy is often inherited in an autosomal dominant manner. (eyewiki.org)
[1] In most people, the "CTG" set of three consecutive nucleotides at this specific location in their DNA repeats approximately 10 to 20 times, whereas in most people with Fuchs dystrophy, it repeats at least 40 to 50 times, averaging close to 100 repeats. (eyewiki.org)
[2] In large cohorts of people with Fuchs' dystrophy, approximately two out of three people harbor this genetic variant, an expanded trinucleotide repeat. (eyewiki.org)
The most prevalent genetic risk factor for Fuchs' dystrophy is the CTG18.1 trinucleotide repeat expansion in TCF4 . (eyewiki.org)

RNA-sequencing from DM1 and DM2 iPSC-derived cardiomyocytes revealed distinct misregulation of gene expression as well as differential aberrant splicing patterns. (jci.org)

Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)
1996) by inserting a part of the htt gene from a juvenile HD patient into the mouse genome. (edubirdie.com)
Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. (biomedcentral.com)
Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)

Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.com)

Detection of TNRs was made difficult by limited technology and methods early on, and years passed before the development of sufficient ways to measure the repeats. (wikipedia.org)

These mice express the human htt cDNA which encodes glutamine and the first 171 amino acids bearing 82 CAG repeats (Schilling et al. (edubirdie.com)
Such molecular defect is based on the expansion of this triplet that codes amino acid glutamine. (hindawi.com)
It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)

SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. (wikipedia.org)
Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)
These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)

Our results show that Msh2 is required for somatic instability of the CAG repeat. (nature.com)
Figure 3: Levels of CAG repeat instability in various tissues from Msh2 -/- , Msh2 +/- and Msh2 +/+ mice. (nature.com)

Other proposed mechanisms for expansion and reduction involve the interaction of RNA and DNA molecules. (wikipedia.org)

Anatomy6

Organisms3

Diseases22

Chemicals and Drugs23

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Psychiatry and Psychology2

Phenomena and Processes48

Information Science3

Health Care2

Mutation20

Mutations13

Inheritance5

Huntington's Disease23

Cytosine-adenine-guanine2

Anticipation1

Exon9

Polyglutamine-coding1

Onset10

Huntingtin Protein2

Phenotype5

Spinocerebellar5

Neurodegenerative disease2

Recessive disease1

Progressive neurodegenerative disorder1

Individuals7

Wild type huntingtin1

Alleles6

Allele2

Sporadic3

Ataxia3

Occur5

DMPK3

Abnormal2

Severity3

Chromosome 191

Myotonic dystrophy3

Copies4

Phenotypic1

Diseases2

Protein huntingtin2

JPH32

Huntington Disease3

Symptoms3

Neurons2

Human HD gene1

Codes for the huntingtin1

Disorder characterized1

Candidate genes2

Mutant1

Pathology1

Mitochondrial2

Mendelian1

Loci1

Proteins1

Dystrophy4

Patterns1

Genome4

Genetic disorders1

Detection1

Amino3

Disorders5

Instability2

Involve1