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Rare Diseases Blog

By Mary Kugler, R.N., About.com Guide to Rare Diseases since 2000

Insights into abnormal proteins and neurodegenerative disorders

Thursday September 29, 2005
Researchers have known that spinocerebellar ataxia type 1 (SCA1), Huntington's disease, and other related neurodegenerative disorders have genetic mutations in the form of repeats which cause resulting proteins to have unusually long stretches of the amino acid glutamine. In SCA1, toxic levels of the protein ataxin-1 accumulate. Scientists at the Howard Hughes Medical Institute have been looking at what role the glutamine error in ataxin-1 plays in the disease process. They found that the expanded glutamine enhances the activity of the parts of ataxin-1 which are outside the glutamine repeat. This finding adds to the knowledge of how the abnormal proteins in neurodegenerative disorders cause disease. The discovery may also offer a new approach to understanding the pathology of Parkinson's and Alzheimer's diseases as well. The research was published in the August 26, 2005, issue of Cell.

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