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Nature 452, 707-708 (10 April 2008) | doi:10.1038/452707a; Published online 9 April 2008
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Neurodegeneration: A question of balance
Leslie Michels Thompson1
Abstract
When a disease-associated gene is mutated, is the cellular activity of its protein product enhanced or reduced? For at least one neurodegenerative disease, spinocerebellar ataxia 1, the answer seems to be both.
Ten devastating neurodegenerative disorders, including Huntington's disease, that are caused by mutations in unrelated genes have one feature in common: in the disease gene, the CAG nucleotide triplet, which encodes the glutamine amino acid, is repeated many times. Consequently, the resulting protein contains a tract of glutamine residues, and disorders with this feature are known collectively as polyglutamine-repeat diseases1.
- Leslie Michels Thompson is in the Departments of Psychiatry and Human Behavior, of Neurobiology and Behavior and of Biological Chemistry, University of California, Irvine, Gillespie 2121, Irvine, California 92696-4260, USA.
Email: lmthomps@uci.edu
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