DNA instability in replicating Huntington's disease lymphoblasts.

ABSTRACT:

Background

The expanded CAG repeat in the Huntington's disease (HD) gene may display tissue-specific variability (e.g. triplet mosaicism) in repeat length, the longest mutations involving mitotic (germ and glial cells) and postmitotic (neurons) cells. What contributes to the triplet mutability underlying the development of HD nevertheless remains unknown. We investigated whether, besides the increased DNA instability documented in postmitotic neurons, possible environmental and genetic mechanisms, related to cell replication, may concur to determine CAG repeat mutability. To test this hypothesis we used, as a model, cultured HD patients' lymphoblasts with various CAG repeat lengths.

Results

Although most lymphoblastoid cell lines (88%) showed little or no repeat instability

SUBMITTER: Cannella M 

PROVIDER: S-EPMC2645380 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature