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Sci. Aging Knowl. Environ., 17 September 2003 PERSPECTIVESHow Does the Huntington's Disease Mutation Damage Cells?David C. Rubinsztein The author is in the Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke's Hospital, Cambridge, CB2 2XY, UK. E-mail: dcr1000{at}cus.cam.ac.uk http://sageke.sciencemag.org/cgi/content/full/sageke;2003/37/pe26Key Words: polyglutamine expansion • huntingtin • neurodegeneration • Huntington's disease
Abstract: Huntington's Disease (HD) is an autosomal dominant neurodegenerative condition with devastating consequences. HD is caused by the expansion of a CAG trinucleotide repeat stretch in the coding sequence of the HD gene that gives rise to a long polyglutamine tract in the huntingtin protein. How this mutated protein gives rise to the disease state is controversial. In this Perspective, I discuss the results of a new study on the effects of the mutated huntingtin protein in light of previous findings and suggest that the HD mutation damages cells by perturbing multiple parallel pathways by gain-of-function and possibly also dominant negative mechanisms. Citation: D. C. Rubinsztein, How Does the Huntington's Disease Mutation Damage Cells? Sci. SAGE KE 2003 (37), pe26 (2003).
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