Neurological gene contains trinucleotide repeat expansion. Medical search. Frequent questions

Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. (wikipedia.org)
the detection of various repeats within these diseases demonstrated this relationship. (wikipedia.org)
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)
Currently, CAG repeat length is considered the biggest onset age modifier for TNR diseases. (wikipedia.org)
One of the problems arising from the misfolded Huntingtin is the increase in oxidative stress, which is common in many neurological diseases such as Alzheimer's, Parkinson's, Amyotrophic Lateral Sclerosis and Creutzfeldt-Jakob disease. (benthamscience.com)
Today I'm going to tell you about microsatellites, and trinucleotide repeat expansions diseases. (hstalks.com)
The other key point of the slide is to show that these diseases are typically either neurological, neurodegenerative, or neuromuscular. (hstalks.com)
Magnetic resonance imaging (MRI) is a non-invasive technique that provides insight about diagnosis and treatment for neurological diseases. (frontiersin.org)
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)
Even though SCA4, like many other of these rare neurological conditions do not yet have a curative treatment, it can be a relief for families with rare diseases that the cause is becoming understood. (lu.se)
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (cdc.gov)
Such an undertaking could have major benefits: for example, in many neurological diseases, certain classes of cells display enhanced vulnerability and are the first to show signs of degeneration, but the basis of this enhanced vulnerability is not known. (mit.edu)
Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
Arnaud Klein has been working on myotonic dystrophy type 1 (DM1) and more generally on repeat expansion diseases for nearly 20 years. (ern-euro-nmd.eu)
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)
In addition, Reata is developing a portfolio of innovative products for a range of neurological diseases. (biogen.com)
Knowledge on these demethylases has led to a tremendous progress in the understanding of methyl marks in gene regulation and role in numerous diseases. (cmbn.no)
Long expansions of transcribed trinucleotide microsatellites have been etiologically associated with some neurological diseases. (scite.ai)
Repeat polymorphism in the genome and variation in coding sequences reflected in these diseases brought an insight into the balancing act of nature between variation and conservation. (rnabiology.org)
Studies have shown that STRs represent a source of phenotypic variations in more than 30 Mendelian diseases, such as neurological disorders (5)(6) . (researchsquare.com)

Huntington Disease (HD) is a neurodegenerative disorder that is caused by a CAG trinucleotide repeat expansion in the huntingtin gene. (ucf.edu)
Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
A fascinating example of enhanced cell-type-specific disease vulnerability is seen in Huntington's disease (HD), a monogenic neurodegenerative disease caused by expansion of CAG (glutamine-encoding) trinucleotide repeats in the huntingtin gene. (mit.edu)
The enhanced vulnerability of medium spiny neurons cannot be explained merely by the pattern of huntingtin expression, as the huntingtin gene itself is expressed in many cells. (mit.edu)
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 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)
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)

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)

DNA analysis was negative for the autosomal dominant spinocerebellar ataxia genes of types 1, 2, 3, and 6. (bmj.com)
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)
Huntington's disease (HD) is the most prevalent autosomal dominant, trinucleotide repeat neurodegenerative disease. (grantome.com)

Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in a genome. (researchsquare.com)

What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
In addition to this there are some types of SCAs caused by other DNA mutations with other trinucleotide repeat expansion nucleotide repeats in non-coding regions of appropriate genes or non-repeat mutations and deletions. (ampkpathway.com)
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1. (cdc.gov)
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)
We were interested to test if wild type huntingtin protected against the toxicity of polyglutamine expansion mutations. (bmj.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)

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)
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)
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)
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)
Now, a research team in Lund has finally pinpointed a mutation in the ZFHX3 gene as the cause of the disease. (lu.se)
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. (nature.com)
TTC expansion mutation is to reduce expression of frataxin at the level of transcription ( 3 ), through the formation of heterochromatin and subsequent gene silencing ( 4 - 8 ). (frontiersin.org)
He worked under the supervision of Dr Bernard Brais to understand the pathological mechanisms leading to the Oculopharyngeal Muscular Dystrophy (OPMD), a disease characterized by a late-onset muscular dystrophy, a triplet expansion mutation in a ubiquitous gene and the formation of intranuclear aggregates. (ern-euro-nmd.eu)
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)
The mutation associated with clinical manifestations of HD is a CAG trinucleotide repeat expansion in the HD gene (3). (torvergata.it)
Indeed, mutation detection enhancement gel electrophoresis of mixed PCR products from cloned haplotypes revealed 24 distinct heteroduplex patterns for the six possible trinucleotide heterozygotes. (scite.ai)
In collaboration with Harry Orr's group (University of Minnesota), we determined that the mutation responsible for SCA1 is an expansion of a CAG trinucleotide repeat encoding glutamine in the protein Ataxin-1. (bcm.edu)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)

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 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)
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 a neurodegenerative disorder caused by an unstable CAG repeat. (torvergata.it)
Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. (siu.edu.ar)

In 1992, for myotonic dystrophy type 1 (DM1), CTG expansion was found in the myotonic dystrophy protein kinase (DMPK) 3' UTR. (wikipedia.org)
The 1006-amino-acid product of this gene, which we have termed rat atrophin related protein(rARP), does not contain a glutamine repeat, but it does contain two regions of alternating acidic and basic amino residues similar to those found in atrophin-1. (johnshopkins.edu)
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)
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)
The FMR1 gene provides instructions for making a protein called FMRP. (medlineplus.gov)
In addition, the repeats make producing protein from the blueprint more difficult, and consequently, some people with the FMR1 gene premutation have lower than normal amounts of FMRP. (medlineplus.gov)
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)
TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frataxin. (frontiersin.org)
TTC triplet repeat expansion in an intron of the nuclear FXN gene, which encodes the essential mitochondrial protein frataxin ( 1 ). (frontiersin.org)
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)
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)
Friedreich's ataxia is an ultra-rare, genetic, life-shortening, debilitating, and degenerative neuromuscular disorder typically caused by a trinucleotide repeat expansion in the first intron of the frataxin gene, which encodes the mitochondrial protein frataxin. (biogen.com)
It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
The activation of this pathway modulates gene transcription and activates multiple downstream Kinasesphosphatases branches, affecting key cellular processes such as protein synthesis, autophagy, apoptosis, and resistance to oxidative stress [ 9 ]. (scientificarchives.com)
3] The HTT gene, or HD gene, codes for a protein called huntingtin. (medscape.com)

because of this, it took almost 200 years for a link between onset of disease and trinucleotide repeats (TNR) to be acknowledged. (wikipedia.org)
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)
It is a triple nucleotide repeat, with age of onset correlating with the length of repeat. (medscape.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)
In all cases, age at onset correlates inversely with repeat number. (bmj.com)
Using the largest cohort of HD patients analyzed to date (2913 individuals from 40 centers worldwide), we developed a parametric survival model based on CAG repeat length to predict the probability of neurological disease onset (based on motor neurological symptoms rather than psychiatric onset) at different ages for individual patients. (torvergata.it)
We provide estimated probabilities of onset associated with CAG repeats between 36 and 56 for individuals of any age with narrow confidence intervals. (torvergata.it)
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)

Huntington Disease (HD) is a hereditary neurological disorder that shows a gene expansion associated with trinucleotide repeats. (medicalalgorithms.com)
Dentatorubral and pallidoluylsian atrophy (DRPLA) is a progressive neurological disorder characterized by neuronal degeneration, especially in the cerebellar dentate nucleus. (johnshopkins.edu)
Men, and some women, with an FMR1 gene premutation are at increased risk of developing a disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). (medlineplus.gov)
This Mirabegron disorder is accompanied by a wide spectrum of severe clinical symptoms such as ataxia of gait and stance ataxia of limb movements dysarthria ophthalmoplegia pyramidal and extrapyramidal disorders muscular rigidity and other severe neurological symptoms [2-4]. (ampkpathway.com)
It is classed as a trinucleotide repeat disorder (Marcy et al, 1993) due to the fact that it results from an expanded CAG repeat which leads to a polyglutamine strand of variable length at the N-terminus (Walker, 2007). (edubirdie.com)

Here we show that replication fork pausing and CAG/CTG trinucleotide repeat instability are not linked, stable and unstable repeats exhibiting the same propensity to stall replication forks when integrated in a yeast natural chromosome. (edu.sa)
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)
Prof. Brahmachari has made major contributions in molecular analysis of genetic disorders associated with trinucleotide amplification and repetitive sequence instability. (rnabiology.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)
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)

DRPLA is caused by an unstable expansion of a CAG trinucleotide repeat coding for glutamine in a gene of unknown function, termed atrophin-1, located on chromosome 12. (johnshopkins.edu)
In these cases, CGG is abnormally repeated more than 200 times, which makes this region of the gene unstable. (medlineplus.gov)
We also show by chromatin immunoprecipitation that Msh2p is enriched at trinucleotide repeat tracts, in both stable and unstable orientations, this enrichment being dependent on MSH3 and MSH6. (edu.sa)

When a DNA trinucleotide repeat sequence is damaged, it may be repaired by processes such as homologous recombination, non-homologous end joining, mismatch repair or base excision repair. (wikipedia.org)
We found that replication fork stalling was dependent on the integrity of the mismatch-repair system, especially the Msh2p-Msh6p complex, suggesting that direct interaction of MMR proteins with secondary structures formed by trinucleotide repeats in vivo, triggers replication fork pauses. (edu.sa)
Our results unravel two new roles for mismatch-repair proteins: stabilization of heteroduplex regions and transient blocking of replication forks passing through such repeats. (edu.sa)

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)
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)
trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). (tesiscolorado.com)
Exon 1 contains a CAG trinucleotide repeat that encodes the amino acid glutamine, followed by another repeat that encodes proline. (jci.org)

The Alzheimer-Dementia Panel examines 16 genes associated with an increased risk of developing neurodegenerative conditions: Alzheimer's disease and genetic disorders that cause dementia. (tesiscolorado.com)
Prof. Brahmachari made fundamental discoveries in demonstrating the structural flexibility of DNA and the role of repetitive sequences in DNA transactions much before the discovery of repeats association with genetic basis of several neurological disorders [1-6]. (rnabiology.org)
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)
Genetic testing revealed 43 CAG repeats in the HD gene. (medscape.com)

National Institute of Neurological Disorders and Stroke. (medscape.com)

Other proposed mechanisms for expansion and reduction involve the interaction of RNA and DNA molecules. (wikipedia.org)
After the breakthroughs, the four mechanisms for TNRs were determined, and more types of repeats were identified as well. (wikipedia.org)
Mechanisms leading to these large expansions of repeated DNA are still poorly understood. (edu.sa)
He obtained his PhD from the University of Glasgow (United Kingdom), where he studied the molecular mechanisms of trinucleotide repeat expansion in human disease. (ern-euro-nmd.eu)
In this multi-layered team, M. Gomes-Pereira leads the "CNS dysfunction in DM1" that focuses on the molecular and cellular mechanisms of neurological damage in DM1, and which he has established and managed for 15 years. (ern-euro-nmd.eu)
This proposal satisfies NINDS goals in translational science: translation of gene silencing therapeutics, early-state therapy development, and identifying mechanisms that underlie nervous system function. (grantome.com)
This proposal addresses treatment of HD through study of basic mechanisms of silencing the gene that causes the disease. (grantome.com)
CMBN shall take on a leading role in elucidating the role of DNA repair and genome maintenance mechanisms in preventing neurological disease and brain ageing. (cmbn.no)

Spinocerebellar ataxia type 4 was one of these, but now a research team in Lund, Sweden, have identified the gene that is responsible. (lu.se)
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)

Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches. (ern-euro-nmd.eu)
Mario Gomes-Pereira has been working on myotonic dystrophy type 1 (DM1) and related trinucleotide repeat expansion disorders for more than 20 years. (ern-euro-nmd.eu)

One study of 101 relatives of patients with FA failed to detect any neurological abnormalities in the heterozygous state. (bmj.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)

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)

For example, in OPCA-I (or SCA-1), the SCA1 gene is on chromosome 6. (medscape.com)

abstract = "Trinucleotide repeat expansions are responsible for at least two dozen neurological disorders. (edu.sa)

The attacks can be associated with various neurological symptoms, occasionally even with the hemiplegic symptoms seen in FHM. (epilepsygenetics.net)
Persons affected with HD have a CAG repeat length (CAG) between 36 and 250, though some individuals with a CAG less than 42 will never show symptoms (4-8). (torvergata.it)

Pathogenic repeat expansions can lead to impaired transcription and reduced frataxin expression, which can result in mitochondrial iron overload and poor cellular iron regulation, increased sensitivity to oxidative stress, and impaired mitochondrial ATP production. (biogen.com)
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)

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)
The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.com)

Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
Short tandem repeats (STRs) are widely present in the human genome. (researchsquare.com)

Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. (wikipedia.org)
In addition to occurring during DNA replication, trinucleotide repeat expansion can also occur during DNA repair. (wikipedia.org)
It was proposed that transient stalling of the replication fork by the repeat tract might trigger slippage of the newly-synthesized strand over its template, leading to expansions or contractions of the triplet repeat. (edu.sa)
Finally, we show that overexpressing MSH2 favors the formation of heteroduplex regions, leading to an increase in contractions and expansions of CAG/CTG repeat tracts during replication, these heteroduplexes being dependent on both MSH3 and MSH6. (edu.sa)
The expansion is thought to occur via slippage during the DNA replication process. (jci.org)

Such molecular defect is based on the expansion of this triplet that codes amino acid glutamine. (hindawi.com)
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)
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)

For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the repeat expansion. (medlineplus.gov)
As in FXPOI (described above), the premutation causes overproduction of abnormal FMR1 mRNA containing the expanded repeat region, and researchers believe that this abnormal mRNA causes FXTAS. (medlineplus.gov)
Many of the abnormal genes are of the expansion repeat variety. (medscape.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)
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)

Genome-wide association studies have identified a firm link between the human FTO gene, obesity and type II diabetes. (cmbn.no)

Both roles may involve direct interactions between MMR proteins and secondary structures formed by trinucleotide repeat tracts, although indirect interactions may not be formally excluded. (edu.sa)
Table 1 The note of acute phase genes and proteins by human primary adipocytes. (centralparkcarriagesofficial.org)

It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)

Each of these processes involves a DNA synthesis step in which strand slippage might occur leading to trinucleotide repeat expansion. (wikipedia.org)

Patients identified with a disease-causing change (a pathogenic or likely pathogenic variant) in a gene on this panel have an increased risk of developing the associated neurodegenerative disease. (tesiscolorado.com)

We searched the expressed sequence tag databank for reiterated trinucleotides and selected EST00493 (D2S196E) with 14 tandem ACA triplets as a potentially polymorphic locus. (scite.ai)

TTC repeats, whereas affected individuals have from approximately 70 to more than 1,000 triplets. (frontiersin.org)
In unaffected individuals, there are 10-34 CAG repeats. (jci.org)

TTC repeats ( 6 , 7 , 15 ), as well as with reduced histone acetylation and increased histone trimethylation at the FXN promoter ( 6 , 8 ), and in intron 1 adjacent to the repeats ( 5 - 7 ). (frontiersin.org)

These heteroduplex regions were not detected when a mutant msh2-E768A gene in which the ATPase domain was mutated was overexpressed. (edu.sa)

Generally, the larger the expansion the more likely they are to cause disease or increase the severity of disease. (wikipedia.org)

In addition, a CAG expansion was located in X-linked spinal and bulbar muscular atrophy (SBMA) sequences. (wikipedia.org)

These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)

SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. (wikipedia.org)
at the time, debate centered around whether disease was brought on by smaller amounts of short expansions or a small amount of long expansions. (wikipedia.org)
The Parkinson's Disease Comprehensive Panel examines 26 genes associated with an increased risk of developing the neurodegenerative condition Parkinson's Disease. (tesiscolorado.com)
This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. (tesiscolorado.com)
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (nature.com)
Back in France, he joined Denis Furling's team as a post-doc and worked on DM1, another triplet expansion disease with intranuclear aggregates. (ern-euro-nmd.eu)
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)
The purpose of these mice was to be able to study and understand repeat expansion which leads to Huntington`s Disease. (edubirdie.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)
One of the outcomes of these efforts has been the demonstration that loss of triplet repeat interruption as the primary steps in ataxia SCA 2 which is followed by repeat expansion [7-9]. (rnabiology.org)

Onwards from 1995, it was also possible to observe the formation of hairpins in triplet repeats, which consisted of repeating CG pairs and a mismatch. (wikipedia.org)
Histone post-translational modifications near the expanded repeats are consistent with heterochromatin formation and consequent FXN gene silencing. (frontiersin.org)

This CGG repeat segment is typically interrupted several times by a different three-base sequence, AGG. (medlineplus.gov)

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)
Size variation was readily detected, with four common alleles containing 12-15 repeats. (scite.ai)

By interrogating microarray data from neuronal cells treated with inhibitors of different specificity, we selected two genes encoding histone macroH2A ( H2AFY2 ) and Polycomb group ring finger 2 ( PCGF2 ) that were specifically down-regulated by the inhibitors targeting HDACs1 and 3 versus the more selective inhibitors for further investigation. (frontiersin.org)

The SCA2 gene is on chromosome 12. (medscape.com)

Anatomy1

Organisms2

Diseases19

Chemicals and Drugs16

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology2

Phenomena and Processes27

Information Science2

Health Care1

Diseases20

Huntingtin gene7

Categorized as a trinucleotide repeat d1

Autosomal dominant3

Microsatellites2

Mutations7

Mutation15

Huntington's10

Protein15

Onset10

Disorder5

Instability4

Nucleotide2

Unstable3

Mismatch Repair3

Wild-type huntingtin4

Exon3

Genetic4

Disorders and Stroke1

Mechanisms8

Spinocerebellar ataxia2

Myotonic dystrophy type2

Abnormalities1

IT151

Psychiatric1

SCA11

Abstract1

Symptoms2

Mitochondrial2

Allele2

STRs2

Replication5

Glutamine3

Abnormal5

Genome-wide1

Proteins2

Molecular1

Slippage1

Pathogenic1

Locus1

Individuals2

Intron1

Heteroduplex1

Severity1

Atrophy1

Motifs1

Disease8

Ataxia2

Formation2

Typically1

Alleles2

Neuronal1

Chromosome 121