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NINDS Hails Discovery of Gene for Familial ALS

For release: Wednesday, March 3, 1993

Officials at the National Institute of Neurological Disorders and Stroke (NINDS) hailed the identification of a gene associated with the familial form of ALS (Lou Gehrig's disease). "This discovery is extremely important because it marks the first identification of a specific gene for a neurodegenerative disease of adult life," said Carl M. Leventhal, M.D., director of the NINDS program that contributed to support for the research reported in the March 3 issue of Nature *. "It also suggests a likely mechanism for the damage to nerve cells in familial ALS and, possibly, other brain disorders."

In the study, Dr. Daniel R. Rosen of the Massachusetts General Hospital in Boston, MA, and a team of international investigators showed that mutations in a gene that codes for the enzyme superoxide dismutase 1 (SOD1) were tightly linked to the occurrence of ALS among 13 families. SOD1 works inside cells to help neutralize the toxic effects of free radicals, which are highly reactive molecules that can trigger destructive chemical chain reactions. Excess levels of free radicals have been suggested as a cause of tissue damage in Parkinson's disease, Alzheimer's disease, trauma, stroke, and other neurological diseases.

"It is intriguing that the gene the scientists have identified plays a vital role in controlling metabolism of free radicals," Dr. Leventhal said. "These findings should stimulate additional research to define the role of free radicals in ALS and other brain disorders."

Dr. Murray Goldstein, director of the NINDS, credited the breakthrough to close cooperation among the scientists, their institutions, and the Federal and private agencies supporting their work. "This breakthrough is the first solid clue in more than 100 years about the possible cause of ALS. It demonstrates how a sustained, collaborative commitment to basic neurological research is now yielding advances in understanding of nervous system disorders."

As many as 30,000 Americans suffer from ALS. Most cases of the disease occur sporadically; however, about 5 percent to 10 percent are familial. ALS strikes in midlife and causes degeneration of the nerve cells in the brain and spinal cord that control voluntary movements. Although patients do not lose sensation or mental alertness, they eventually become physically disabled, have difficulty speaking and swallowing, and may succumb to infections, particularly pneumonia. Death usually occurs in about 5 years. Currently there is no cure or preventive measure; however, several therapeutic approaches are under investigation.

The NINDS, one of the National Institutes of Health located in Bethesda, MD, is the nation's leading supporter of research on the brain and nervous system and a lead agency for the congressionally mandated Decade of the Brain. The Institute conducts and supports a broad program of basic and clinical neurological investigations into ALS at leading biomedical research institutions.

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* Rosen, D.R., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature (362), March 4, 1993.

Last Modified August 7, 2009