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UMMS researchers isolate gene mutations in patients with inherited amyotrophic lateral sclerosis
Date:7/15/2012

WORCESTER, Mass. A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS). Mutations to the profilin (PFN1) gene, which is essential to the growth and development of nerve cell axons, is estimated to account for one to two percent of inherited ALS cases. The finding, described today in the online edition of Nature, points to defects in a neuron's cytoskeleton structure as a potential common feature among diverse ALS genes.

"This discovery identifies what may possibly be a common biological mechanism involved across familial ALS cases regardless of genetics," said John Landers, PhD, associate professor of neurology and senior author of the study. "We know of at least three other ALS genes, in addition to PFN1, that adversely impact axon growth. If indeed, this is part of the disease's mechanism, then it might also be a potential target for therapeutics."

Robert Brown, MD, DPhil, a co-author on the study and chair of neurology at UMass Medical School, said "Dr. Landers has done great work in defining this new pathway for motor neuron death. We are delighted to have identified the defects in families from the U.S., Israel and France that we have been investigating for several years. Our finding is particularly exciting because it may provide new insights into ALS treatment targets."

ALS is a progressive, neurodegenerative disorder affecting the motor neurons in the central nervous system. As motor neurons die, the brain's ability to send signals to the body's muscles is compromised. This leads to loss of voluntary muscle movement, paralysis and eventually respiratory failure. The cause of most cases of ALS is not known. Approximately 10 percent of cases are inherited. Though investigators at UMass Medical School and else
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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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