Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.


Sci. Aging Knowl. Environ., 17 September 2003
Vol. 2003, Issue 37, p. pe26
[DOI: 10.1126/sageke.2003.37.pe26]

PERSPECTIVES

How 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/pe26

Key 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).

Read the Full Text







To Advertise     Find Products


Science of Aging Knowledge Environment. ISSN 1539-6150