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UMMS researchers identify protein associated with sporadic ALS
Date:10/18/2010

WORCESTER, Mass. Researchers at the University of Massachusetts Medical School have uncovered new evidence suggesting that the SOD1 gene, which is implicated in 20 percent of inherited cases of amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease), also plays a part in sporadic forms of the disease. Discovery of this common pathology is described in the October 17 online edition of Nature Neuroscience.

While the SOD1 gene has long been understood to play a role in familial ALS, scientists suspected a connection to the more common form of ALS, for which there is no known cause, and sought to establish a shared pathological pathway. "This common ALS pathology between sporadic and familial ALS means that current gene silencing and immunotherapeutic treatments being developed in academic and commercial labs that target the mutant SOD1 gene may be extended to target non-mutant SOD1 protein found in sporadic ALS cases," said Daryl Bosco, PhD, assistant professor of neurology and lead author of the study.

ALS is a progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. It is estimated that 5,000 people in the U.S. are newly diagnosed with the disease each year. As motor neurons die, the brain's ability to send signals to the body's muscles is compromised, leading to the loss of voluntary muscle movement, paralysis and eventually death from respiratory failure. The average survival rate for patients with ALS is three to five years. In 1993, a team of researchers led by Robert H. Brown Jr., MD, DPhil, chair of neurology at the University of Massachusetts Medical School, discovered the first gene linked to familial ALS, a protein anti-oxidant known as superoxide dismutase, or SOD1. Only 10 percent of ALS cases are familial, while roughly 90 percent are sporadic in naturemeaning there is no identifiable familial risk or family history.

When Dr. Brown began researching the genetic causes of familial
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Contact: Jim Fessenden
james.fessenden@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

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