Abstract
Expanded CAG trinucleotide repeats, which encode polyglutamine (polyQ) tracts, are the cause of a number of neurodegenerative disorders, including Huntington's disease and several spinocerebellar ataxias. While the underlying genetic defect has been known for many years, and the pathology well studied, the actual mechanism by which these stretches of Gln residues cause the severe degeneration associated with such disorders is still undetermined. It has been shown that the accumulation of mutant proteins in the nucleus results in cell toxicity and neuronal death, but that if the mutant proteins do not enter the nucleus, the cell survives. This suggests a vital pathological role for the polyQ proteins within the nucleus.
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