Researchers have discovered how the abnormal repetition of a genetic sequence can have disastrous consequences that lead to the death of neurons that govern balance and motor coordination. The studies bolster the emerging theory that neurodegenerative disorders can be caused by having extra copies of a normal protein, not just a mutated one.
People who are afflicted with the rare neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1) suffer damage to cerebellar Purkinje cells caused by a toxic buildup of the protein Ataxin-1. Researchers knew that SCA1, Huntingtons disease and other related disorders arise because of a “genetic stutter,” in which a mutation causes a particular gene sequence to repeat itself. These abnormal genetic repeats cause the resulting proteins to contain unusually long repetitive stretches of the amino acid glutamine.
The new findings, which are published in the August 26, 2005, issue of the journal Cell, provide a molecular explanation for Ataxin-1s assault on cerebellar Purkinje cells.
Jim Keeley | EurekAlert!
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