Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver.

ABSTRACT:

Background

Age at onset of Huntington's disease (HD) is largely determined by the CAG trinucleotide repeat length in the HTT gene. Importantly, the CAG repeat undergoes tissue-specific somatic instability, prevalent in brain regions that are disease targets, suggesting a potential role for somatic CAG repeat instability in modifying HD pathogenesis. Thus, understanding underlying mechanisms of somatic CAG repeat instability may lead to discoveries of novel therapeutics for HD. Investigation of the dynamics of the CAG repeat size changes over time may provide insights into the mechanisms underlying CAG repeat instability.

Methodology/principal findings

To understand how the HTT CAG repeat length changes over time, we quantified somatic instability of the CAG repeat in Hunting

SUBMITTER: Lee JM 

PROVIDER: S-EPMC3163641 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature