Epigenetic mechanisms governing cell type specific somatic expansion and toxicity in Huntington's disease.

ABSTRACT: Huntington's disease (HD) is characterized by neuronal dysfunction and degeneration that varies markedly by brain region and cell type. We previously showed that CAG repeat expansion in exon 1 of the mHTT gene correlates with increased expression of the mismatch repair genes MSH2 and MSH3 in striatal medium spiny neurons¹, and demonstrated that, in the striatum and cerebral cortex of individuals with HD, hundreds of genes are dysregulated in neuronal cell types carrying somatically expanded CAG repeat in mHTT ^1,2. Here we employ comprehensive epigenetic profiling in specific neuronal and glial cell types from the human striatum, cerebral cortex, hippocampus and cerebellum of control and HD donor samples to identify cell type- and species-sp

SUBMITTER: Baffuto M 

PROVIDER: S-EPMC12154940 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature