New developments in Huntington's disease and other triplet repeat diseases: DNA repair turns to the dark side.

ABSTRACT: Huntington's disease (HD) is a fatal, inherited neurodegenerative disease that causes neuronal death, particularly in medium spiny neurons. HD leads to serious and progressive motor, cognitive and psychiatric symptoms. Its genetic basis is an expansion of the CAG triplet repeat in the HTT gene, leading to extra glutamines in the huntingtin protein. HD is one of nine genetic diseases in this polyglutamine (polyQ) category, that also includes a number of inherited spinocerebellar ataxias (SCAs). Traditionally it has been assumed that HD age of onset and disease progression were solely the outcome of age-dependent exposure of neurons to toxic effects of the inherited mutant huntingtin protein. However, recent genome-wide association studies (GWAS) have revealed significant effects of g

SUBMITTER: Lahue RS 

PROVIDER: S-EPMC7672267 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature