Manifestation of Huntington's disease pathology in human induced pluripotent stem cell-derived neurons.

ABSTRACT:

Background

Huntington's disease (HD) is an incurable hereditary neurodegenerative disorder, which manifests itself as a loss of GABAergic medium spiny (GABA MS) neurons in the striatum and caused by an expansion of the CAG repeat in exon 1 of the huntingtin gene. There is no cure for HD, existing pharmaceutical can only relieve its symptoms.

Results

Here, induced pluripotent stem cells were established from patients with low CAG repeat expansion in the huntingtin gene, and were then efficiently differentiated into GABA MS-like neurons (GMSLNs) under defined culture conditions. The generated HD GMSLNs recapitulated disease pathology in vitro, as evidenced by mutant huntingtin protein aggregation, increased number of lysosomes/autophagosomes, nuclear indentations, and enhanced

SUBMITTER: Nekrasov ED 

PROVIDER: S-EPMC4832474 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature