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Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease caused by a CAG repeat mutation in exon 1 of the HD gene. This repeat expansion leads to an extended polyglutamine tract in the huntingtin (htt) protein. Symptoms of HD are associated with hyperkinectivity and include chorea as well as other motor abnormalities. Degeneration is most apparent in a region of the striatum called the caudate putamen. Loss of GABAergic spiny projection neurons in this area leads to motor problems. My lab has made significant contributions to the understanding of HD by developing the commonly used R6/2 transgenic mouse model. The development of this model has led to our discovery of htt protein aggregates in mice and humans, which are presumably associated with neurodegeneration and compromise of the degradation pathway. Evidence suggests that mutant htt alters gene transcription factors (CREB binding protein, and SP1), p53 dependent apoptosis, transport of BDNF, interactions with caspases and proteasomes, as well as mitochondrial function. Treatment strategies include environmental enrichment, anti-apoptosis drugs, and gene therapy. While a cure for HD remains to be uncovered, newly proposed mechanisms of toxicity should lead to promising clinical trials.


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