Early transcriptional changes linked to naturally occurring Huntington's disease mutations in human embryonic stem cells

Multiple human embryonic stem (ES) cell lines derived from blastocysts diagnosed as carrying the mutant huntingtin gene by pre-implantation diagnosis were used to explore early developmental changes in gene expression. How mutant huntingtin impacts on signalling pathways in the pre-symptomatic period has remained essentially unexplored in humans due to a previous lack of appropriate models. Total RNA was isolated from 10 human ES cell lines, 6 HD and 4 wild type control, and their neural stem cell (NSC) progeny.