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Tucson, Arizona | Published: 08.23.2007
Scientists have linked gene variants to amyotrophic lateral sclerosis, the incurable nerve disorder that paralyzed and killed baseball's Lou Gehrig.
One of the genes linked to ALS, often called Lou Gehrig's disease, makes a protein that appears to poison muscle- stimulating nerve cells in laboratory dishes, said Dietrich A. Stephan, director of discovery research at the Translational Genomics Research Institute in Phoenix, who led the study.
The study was supported by a grant from the Muscular Dystrophy Association in Tucson and the Dorrance Family Foundation in Scottsdale.
The gene, called FLJ10986, along with at least 10 others identified in the study, may shed light on a disease that strikes about one in 17,000 people and has puzzled scientists for decades. Clues as to how the disorder causes nerves to disconnect and pull away from muscles may help doctors devise new treatments within a few years, Stephan said.
"As we unravel the biology, there's a good chance that we could stop the progression of the disease," he said in a telephone interview. "We may potentially even get the nerve cell bodies to reconnect to muscles."
A form of ALS that runs in families is closely linked to abnormalities in a gene called SOD1 that makes a nerve cell toxin called superoxide dismutase. For more than 90 percent of cases, studies have implicated a few muscle proteins that appear to be weakly associated with the disease.
Stephan led a nationwide team of researchers at U.S. medical schools, hospitals and research centers in the effort to compare DNA from 1,251 ALS patients with samples from about 1,500 healthy people. They used research tools made by Illumina Inc. and Affymetrix Inc.
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