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Trinucleotide Repeat ExpansionTrinucleotide RepeatsFriedreich AtaxiaMyotonic DystrophyDNA Repeat ExpansionSpinocerebellar DegenerationsFragile X SyndromeHuntington DiseaseFragile X Mental Retardation ProteinIron-Binding ProteinsAllelesMutationRepetitive Sequences, Nucleic AcidSpinocerebellar AtaxiasMachado-Joseph DiseaseBase SequenceHeredodegenerative Disorders, Nervous SystemNerve Tissue ProteinsMolecular Sequence DataGenomic InstabilityFrontotemporal DementiaFlap EndonucleasesMicrosatellite RepeatsAnticipation, GeneticDNAIntranuclear Inclusion BodiesNucleic Acid ConformationInverted Repeat SequencesMinisatellite RepeatsTandem Repeat SequencesPedigreeRNA-Binding ProteinsCerebellar AtaxiaAge of OnsetChromosome FragilityMuscular Dystrophy, OculopharyngealGenetic Diseases, InbornPolymerase Chain ReactionAmyotrophic Lateral SclerosisPolymorphism, GeneticNeurodegenerative DiseasesNuclear ProteinsProtein-Serine-Threonine KinasesPhenotypePeptidesProteinsDNA RepairMice, TransgenicSequence Analysis, DNAReceptors, AndrogenModels, GeneticMyotonic DisordersGenotypeRNA, MessengerDNA PrimersTranscription, GeneticDisease Models, AnimalGenome, HumanGenes, DominantDNA ReplicationMyoclonic Epilepsies, ProgressiveAmino Acid SequenceMutS Homolog 2 ProteinGenetic MarkersHeterozygoteExonsRepetitive Sequences, Amino AcidSaccharomyces cerevisiaeNucleic Acid HeteroduplexesDNA-Binding Proteins

Myotonic dystroDystrophia myotonTripletMutationsGeneticsTranscriptCoding sequenceMutationSegmentSeverityUntranslated regionToxicDisorderPairsProteinCellsDisordersFindingsMechanismsMuscleDetermineDevelopmentPeopleResultDiseaseParent

Myotonic dystro2

• In 1992, for myotonic dystrophy type 1 (DM1), CTG expansion was found in the myotonic dystrophy protein kinase (DMPK) 3' UTR. (wikipedia.org)
• DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. (encyclopedia.pub)

Dystrophia myoton1

• A CTG repeat element normally resides in the 3' untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene, but when expanded it is the genetic lesion of myotonic dystrophy type 1 (DM1), a hereditary neuromuscular disease. (bvsalud.org)

Triplet5

• 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)
• Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. (wikipedia.org)
• Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. (wikipedia.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)
• This sequence, which is written as CTG, is called a triplet or trinucleotide repeat. (encyclopedia.pub)

Mutations2

• Mutations in the DMPK gene cause a form of myotonic dystrophy known as myotonic dystrophy type 1. (encyclopedia.pub)
• Genetic disorders result from new or inherited gene mutations . (amboss.com)

Genetics1

• Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)

Transcript2

• 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 pathogenic DMPK transcript containing the CUG expansion is retained in ribonuclear foci as part of a complex with RNA-binding proteins such as muscleblind-like 1 (MBNL1), resulting in aberrant splicing of numerous RNA transcripts and consequent physiological abnormalities including myotonia. (bvsalud.org)

Coding sequence1

• In 1993, for Huntington's disease (HD), a longer-than-usual CAG repeat with was found in the exon 1 coding sequence. (wikipedia.org)

Mutation2

• The type of mutation that causes myotonic dystrophy type 1 is known as a trinucleotide repeat expansion. (encyclopedia.pub)
• This mutation increases the size of the repeated CTG segment in the DMPK gene. (encyclopedia.pub)

Segment1

• One region of the DMPK gene contains a segment of three DNA building blocks (nucleotides) that is repeated multiple times. (encyclopedia.pub)

Severity3

• Generally, the larger the expansion the more likely they are to cause disease or increase the severity of disease. (wikipedia.org)
• 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)
• The size of the trinucleotide repeat expansion is associated with the severity of signs and symptoms. (encyclopedia.pub)

Untranslated region1

• In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG expansion in its 5' untranslated region (UTR). (wikipedia.org)

Toxic5

• DYNE-101 consists of an antigen-binding fragment antibody (Fab) conjugated to an antisense oligonucleotide (ASO) and is designed to enable targeted muscle tissue delivery with the goal of reducing toxic DMPK RNA in the nucleus, releasing splicing proteins, allowing normal mRNA processing and translation of normal proteins, and potentially stopping or reversing the disease. (tmcnet.com)
• Dyne has generated comprehensive preclinical data supporting its DM1 program, including reduction of nuclear foci and correction of splicing in patient cells, robust knockdown of toxic human nuclear DMPK RNA and correction of splicing in a novel in vivo model developed by Dyne, and reversal of myotonia in a disease model. (tmcnet.com)
• 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)
• Expansions of CUG trinucleotide sequences in RNA transcripts provide the basis for toxic RNA gain-of-function that leads to detrimental changes in RNA metabolism. (bvsalud.org)
• Herein, we demonstrate molecular and physiological amelioration of the toxic effects of mutant RNA in the HSA(LR) mouse model of DM1 by systemic administration of peptide-linked morpholino (PPMO) antisense oligonucleotides bearing a CAG repeat sequence. (bvsalud.org)

Disorder1

• People with 35 to 49 CTG repeats do not develop myotonic dystrophy type 1, but their children are at risk of having the disorder if the number of CTG repeats increases. (encyclopedia.pub)

Pairs4

• The human genome consists of 23 pairs of chromosomes ( 22 pairs of homologous chromosomes and one pair of sex chromosomes ). (amboss.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)
• Each human cell contains 23 pairs of homologous chromosomes (corresponding in structure and genetic information, i.e., 23 chromosomes are inherited from each parent). (amboss.com)
• Human cells contain 22 pairs of homologous autosomes. (amboss.com)

Protein2

• Central nervous system (CNS) gene transfer by vectors like adeno-associated virus (AAV) overcome this barrier by allowing the bodies' own cells to produce the therapeutic protein, but previous studies using this method to target amyloid-ß have shown success only with truncated single chain antibodies (Abs) lacking an Fc domain. (bvsalud.org)
• Wucherpfennig, K.W. and Hafler, D.A. (1995) A review of T-cell receptors in multiple sclerosis: Clonal expansion and persistence of human T-cells specific for an immunodominant myelin basic protein peptide. (scirp.org)

Cells9

• People with myotonic dystrophy type 1 have from 50 to 1,000 CTG repeats in most cells. (encyclopedia.pub)
• The number of repeats may be even greater in certain types of cells, such as muscle cells. (encyclopedia.pub)
• People with the classic features of myotonic dystrophy type 1, including muscle weakness and wasting beginning in adulthood, usually have between 100 and 1,000 CTG repeats in their cells. (encyclopedia.pub)
• People born with the more severe, congenital form of myotonic dystrophy type 1 tend to have more than 1,000 CTG repeats in their cells. (encyclopedia.pub)
• People with the mild form of the condition usually have between 50 and 150 CTG repeats in their cells. (encyclopedia.pub)
• Here we show that CX3CR1 is expressed in the motile cilia of differentiated human airway epithelial (HAE) cells, and that CX3CR1 co-localizes with RSV particles. (bvsalud.org)
• Given previously published evidence of the interaction of G with CX3CR1 in human lymphocytes, these findings suggest a role for G in the interaction of RSV with ciliated lung cells. (bvsalud.org)
• Komatsu, T., Moriya, N. and Shiohara, T. (1996) T cell receptor (TCR) repertoire and function of human epidermal T cells: Restricted TCR V alpha-V beta genes are utilized by T cells residing in the lesional epidermis in fixed drug eruption. (scirp.org)
• 1998) Comparative sequence analysis of the human T cell receptor beta chain in juvenile rheumatoid arthritis and juvenile spondylarthropathies: Evidence for antigenic selection of T cells in the synovium. (scirp.org)

Disorders3

• SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. (wikipedia.org)
• 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)

Findings1

• These findings suggest that CNS gene delivery of a silent anti-Aß scFv-IgG was well-tolerated, durably expressed and functional in a relevant disease model, demonstrating the potential of this modality for the treatment of Alzheimer's disease. (bvsalud.org)

Mechanisms3

• 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)
• Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)

Muscle1

• In non-human primates, DYNE-101 demonstrated a favorable safety profile and achieved enhanced muscle distribution as evidenced by significant reduction in wild-type DMPK RNA. (tmcnet.com)

Determine1

• Repeat composition and location are used to determine the mechanism of a given expansion. (wikipedia.org)

Development1

• 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)

People1

• In most people, the number of CTG repeats in this gene ranges from 5 to 34. (encyclopedia.pub)

Result1

• If the loop out structure is formed from the sequence on the daughter strand this will result in an increase in the number of repeats. (wikipedia.org)

Disease4

• because of this, it took almost 200 years for a link between onset of disease and trinucleotide repeats (TNR) to be acknowledged. (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)
• 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)
• It is a monogenic, autosomal dominant disease caused by an abnormal trinucleotide expansion in a region of the DMPK gene. (tmcnet.com)

Parent1

• However, if the loop out structure is formed on the parent strand, a decrease in the number of repeats occurs. (wikipedia.org)