2009, 2010, 2010
Huntington’s disease (HD) results from expansion of CAG repeats in the huntingtin gene in chromosome 4, resulting in misfolded and aggregated huntingtin protein inside medium spiny neurons. In HD, these neurons ultimately die, resulting in the classical symptoms of the disease. Current treatments for HD are ineffective, as none attempt to treat the source of the disease. A new method that attempts to correct the expanded huntingtin gene is needed for effective, long term treatment of the disease. Recent advances in the field of induced pluripotent stem cells and gene therapy have shown that induction of pluripotency combined with homologous recombination can correct genetic disease in mice. We propose the hypothesis that fibroblasts from HD model mice and human HD patients can be transformed into IPS cells. After IPS cell formation, the huntingtin gene will be repaired using homologous recombination, and the cells will be directly differentiated into medium spiny neurons. Transplantation of the neurons into HD mice models representing healthy, mild, and severe forms of the disease will follow, and improvements in HD related symptoms will be evaluated. Perfection of our methods is vital to future use of IPS cells and gene therapy to treat disease.
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