Continuous and periodic expansion of CAG repeats in Huntington's disease R6/1 mice.

ABSTRACT: Huntington's disease (HD) is one of several neurodegenerative disorders caused by expansion of CAG repeats in a coding gene. Somatic CAG expansion rates in HD vary between organs, and the greatest instability is observed in the brain, correlating with neuropathology. The fundamental mechanisms of somatic CAG repeat instability are poorly understood, but locally formed secondary DNA structures generated during replication and/or repair are believed to underlie triplet repeat expansion. Recent studies in HD mice have demonstrated that mismatch repair (MMR) and base excision repair (BER) proteins are expansion inducing components in brain tissues. This study was designed to simultaneously investigate the rates and modes of expansion in different tissues of HD R6/1 mice in order to further und

SUBMITTER: Mollersen L 

PROVIDER: S-EPMC3000365 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature