Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat.

ABSTRACT: Somatic mosaicism of repeat length is prominent in repeat expansion disorders such as Huntington disease and myotonic dystrophy. Somatic mosaicism is age-dependent, tissue-specific and expansion-biased, and likely contributes toward the tissue-specificity and progressive nature of the symptoms. We propose that therapies targeted at somatic repeat expansion may have general utility in these disorders. Specifically, suppression of somatic expansion would be expected to be therapeutic, whilst reversion of the expanded mutant repeat to within the normal range would be predicted to be curative. However, the effects of genotoxic agents on the mutational properties of specific nuclear genes are notoriously difficult to define. Nonetheless, we have determined that chronic exposure over a three mon

SUBMITTER: Gomes-Pereira M 

PROVIDER: S-EPMC419613 | biostudies-literature | 2004

REPOSITORIES: biostudies-literature