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Gene Mutation Linked to Inherited ALS

Discovery might one day lead to additional treatments, experts say

THURSDAY, Feb. 26 (HealthDay News) -- A new gene has been identified as playing a role in the inherited form of amyotrophic lateral sclerosis, or ALS, say researchers at the University of Massachusetts Medical School and King's College, London.

The discovery, a mutation in the FUS/TLS gene, is the fourth gene linked to the neurological disorder, also known as Lou Gehrig's disease. The finding was reported in the Feb. 27 issue of the journal Science.

"We found a series of mutations in a gene that interacts with biological pathways already implicated in ALS and other neurological diseases, resulting in familial ALS of differing inheritance patterns and varying severity," Dr. Thomas Kwiatkowski, of the Institute for Neurodegenerative Disease at Massachusetts General Hospital and lead author of the report, said in a news release from the hospital.

The discovery "puts us closer to identifying the link between inherited and sporadic ALS as well as to new targets for drug design," he said.

In people with ALS, motor neurons in the central nervous system begin to die, compromising the brain's ability to send signals to the muscles. As the disease progresses, people lose voluntary muscle movement, develop paralysis and eventually die from respiratory failure. About 10 percent of ALS cases are inherited, but the cause of most cases of ALS is unknown.

The researchers discovered the FUS/TLS gene mutation on both copies of chromosome 16 in four family members with ALS who live on a small Cape Verde island. Three other family members also had two mutated copies of FUS/TLS but had not yet reached the age of onset of ALS. Several unaffected family members had a single copy of the mutation. No FUS/TLS mutations were found in a control group of 1,446 North Americans.

Eventually, the researchers found FUS/TLS mutations in other families involved in earlier research efforts, leading to the discovery of 13 different FUS/TLS mutations in 17 families with inherited ALS.

Dr. Robert Brown, the study's senior author, said in the news release that the discovery "will almost certainly lead to new animal- and cell-based models for this disease, which should accelerate efforts to find a therapy for ALS."

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about ALS.

-- Robert Preidt

SOURCE: Massachusetts General Hospital, news release, Feb. 26, 2009

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