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Gene Tied to Inherited Form of Lou Gehrig's Disease

Posted Dec 09 2010 12:00pm
Variant may cause 1 to 2 percent of familial cases of ALS, study finds

By Robert Preidt
Thursday, December 9, 2010
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THURSDAY, Dec. 9 (HealthDay News) -- A genetic mutation associated with an inherited form of Lou Gehrig's disease -- known in the medical world as amyotrophic lateral sclerosis (ALS) -- has been identified by an international team of researchers.

About five percent of ALS cases are hereditary.

In their study, the team used a new type of genomics technology called exome sequencing to find the mutation in the valosin-containing protein (VCP) gene, which has been described as a molecular "chaperone" aiding various cellular activities such as protein breakdown.

"Identifying the genetic mutations responsible for the inherited form of ALS increases our knowledge of the disease process. Mutations in the VCP gene appear to cause one to two percent of the familial ALS cases," project leader Dr. Bryan Traynor, of the Laboratory of Neurogenetics at the U.S. National Institute on Aging, said in an NIA news release.

The study appears in the journal Neuron.

ALS is a rapidly progressive, fatal neurological disease that destroys the neurons that control voluntary muscles. People with the disease lose their strength and the ability to move their arms, legs and body. They eventually lose the ability to breathe.

SOURCE: U.S. National Institute on Aging, news release, Dec. 9, 2010


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