Fruit flies reveal normal function of gene mutated in spinocerebellar ataxia type 7

Disruptive clumps of mutated protein are often blamed for clogging cells and interfering with brain function in patients with the neurodegenerative diseases known as spinocerebellar ataxias. But a new study in fruit flies suggests that for at least one of these diseases, the defective proteins may not need to form clumps to do harm.The study, published February 1, 2014, in the journal Genes and Development, focuses on ataxin-7, the gene that is mutated in patients with spinocerebellar ataxia type 7 (SCA-7). Researchers led by investigators Jerry Workman, Ph.D. and Susan Abmayr, Ph.D. at the Stowers Institute for Medical Research found that fruit flies that lack Ataxin-7 experience neurodegeneration in the brain and the eye — paralleling the effects of the human disease. “The assumption has been that the disease is caused by the aggregated proteins,” Workman says. “But in the mutated fly, there’s no aggregated protein. There’s no soluble protein. It’s not there at all. The lack of Ataxin-7 causes neurodegeneration in the fruit fly.”Workman and Abmayr did not set out to study Ataxin-7. …

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