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Why do triplet expansion disease contain CAG repeats?

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Myotonic dystrophy

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Triplet expansion diseases contain CAG repeats due to the expansion of repetitive DNA sequences beyond normal lengths, leading to severe neurodegenerative conditions. These diseases, such as Huntington's disease, SBMA, and SCA1, are categorized as polyglutamine disorders caused by the repeat of CAG . Additionally, the pathogenesis of these diseases involves the presence of expanded CAG/CTG repeats in coding and non-coding regions of the genome, affecting RNA and protein functions . The expansion of CAG repeats is linked to over 40 hereditary neurodegenerative disorders, with the repeats showing an evolutionary trend of late occurrence or increased copy numbers in vertebrates, particularly in primates and humans, possibly due to positive selection for neuronal functions despite disease susceptibility .

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Open access•Journal Article Neurodegenerative triplet repeat expansion disorders: A review Mitesh Patel, R. K. Patel, Tushar Chauhan, Jigar V Suthar, Sanjay Dave - Show less +4 more 01 Nov 2018-The Pharma Innovation Journal	Triplet expansion diseases contain CAG repeats due to polyglutamine disorders like Huntington disease, SBMA, and SCA1, where CAG repeats lead to neurodegenerative conditions.
Open access•Posted Content•DOI Expansion of triplet nucleotide repeats in primates and other vertebrates: an evolutionary perspective Saketh Murthy, Rakesh Mishra - Show less +1 more 06 Apr 2023-bioRxiv	Triplet expansion diseases contain CAG repeats because CAG repeats in coding regions lead to polyglutamine tracts, causing neurological disorders, as observed in the study on vertebrates.
Open access•Journal Article•DOI Development of a mutant allele-specific transcriptional repressive agent in CAG/CTG triplet repeat diseases 01 Jan 2022	Triplet expansion diseases contain CAG repeats due to their causal role in inherited neurological disorders like Huntington's disease, affecting pathogenic RNA and polypeptide mechanisms.
Open access•Journal Article•DOI Therapeutic targeting expanded DNA using cyclic pyrrole-imidazole polyamide in CAG/CTG triplet repeat neurological diseases. Kosuke Kawakubo, Susumu Ikenoshita, Kazuya Masu, Sefan Asamitsu, Yasushi Yabuki, Hiroshi Sugiyama, Norifumi Shioda - Show less +6 more 01 Jan 2022-日本薬理学会年会要旨集 =	Triplet expansion diseases contain CAG repeats due to their causal role in various neurological disorders like Huntington's disease, spinocerebellar ataxia, and myotonic dystrophy type 1.
Open access•Journal Article•DOI Structural insights into synthetic ligands targeting A-A pairs in disease-related CAG RNA repeats. Sanjukta Mukherjee, Leszek Błaszczyk, Wojciech Rypniewski, Christoph Falschlunger, Ronald Micura, Asako Murata, Chikara Dohno, Kazuhiko Nakatani, Agnieszka Kiliszek - Show less +8 more 18 Nov 2019-Nucleic Acids Research 19 Citations	CAG repeats in triplet expansion diseases lead to abnormal expansion of repeated sequences, affecting RNA or protein function, causing hereditary neurodegenerative disorders.

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