Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases
β Scribed by Shoji Tsuji
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 780 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1435-232X
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π SIMILAR VOLUMES
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG trinucleotide repeat in exon 1 of the IT15 gene. In normal individuals, IT15 contains up to 35 CAG repeats, while in affected the repeat length is >36. Polymerase chain reaction
CAG repeats resulting in long polyglutamine tracts have been implicated in the pathogenesis of at least eight neurodegenerative diseases including Huntington. Expression of polyglutamine repeats is required for disease and increasing length of the repeats leads to earlier onset of illness (anticipat