ATXN1 Gene Tied to Rare Disorder Regulates Key Enzyme in Alzheimer’s

ATXN1 Gene Tied to Rare Disorder Regulates Key Enzyme in Alzheimer’s
A gene associated with a rare balance disorder also may be involved in susceptibility to Alzheimer's disease, a new study in mice shows. The study, "Loss of Ataxin-1 Potentiates Alzheimer’s Pathogenesis by Elevating Cerebral BACE1 Transcription," was published in the journal Cell. Mutations that affect a gene's function can be divided, broadly, into two groups: gain-of-function mutations, in which the gene does something extra it normally doesn't; and loss-of-function mutations, in which the gene doesn't work the way it should. One example of a gain-of-function mutation occurs in spinocerebellar ataxia type 1, a rare neurological disorder characterized by loss of coordination and balance, which is caused by a gain-of-function mutation in the gene ATXN1which give instructions to make a protein called ataxin-1. Interestingly, some studies have suggested that ATXN1 also may be involved in Alzheimer's disease, but how hasn't been clear because the gain-of-function mutation is linked with a separate disease. "So the big question facing us was, how does a gene involved in a balance disorder somehow increase the risk for Alzheimer's disease?" Rudolph E. Tanzi, PhD, explained in a press release. Tanzi is director of the Genetics and Aging Research Unit at Massachu
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