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NIH Record - 75th Anniversary - National Institutes of Health

Gene Silencing Shows Promise For Treating Two Fatal Neurological Disorders

A loop of DNA

In studies of mice, scientists discovered a drug, designed to silence a gene called ataxin 2, that may be effective at treating ALS and SCA2.

Photo: NINDS

In two studies of mice, researchers showed that a drug, engineered to combat the gene that causes spinocerebellar ataxia type 2 (SCA2), might also be used to treat amyotrophic lateral sclerosis (ALS). Both studies were published in the journal Nature with funding from NINDS.

“Our results provide hope that we may one day be able to treat these devastating disorders,” said Dr. Stefan Pulst, professor and chair of neurology at the University of Utah and a senior author of one of the studies. In 1996, Pulst and other researchers discovered that mutations in the ataxin 2 gene cause SCA2, a fatal inherited disorder that primarily damages a part of the brain called the cerebellum, causing patients to have problems with balance, coordination, walking and eye movements.

For this study, his team found that they could reduce problems associated with SCA2 by injecting mouse brains with a drug programmed to silence the ataxin 2 gene. In the accompanying study, researchers showed that injections of the same type of drug into the brains of mice prevented early death and neurological problems associated with ALS, a paralyzing and often fatal disorder.

“Surprisingly, the ataxin 2 gene may act as a master key to unlocking treatments for ALS and other neurological disorders,” said Dr. Aaron Gitler of Stanford University, senior author of the second study. In 2010, Gitler and colleagues discovered a link between ataxin 2 mutations and ALS.

“Many years of research on yeast and flies laid the groundwork for these exciting results,” said Dr. Daniel Miller, a program director at NINDS. “They demonstrate that rigorous studies on simple disease models can lead to powerful insights that help us understand and potentially treat seemingly untreatable disorders.”

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