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Mutations in a newly identified gene lead to amyotrophic lateral sclerosis (ALS), a deadly disease characterized by increasing damage to the nerves that control muscle movement. The findings, reported by two separate research groups in the October issue of Nature Genetics (Vol. 29, Issue 2, 01 Oct 01), should allow researchers to probe how nerves survive and also develop strategies to protect them from becoming injured.
Most cases of ALS, also known as Lou Gehrig disease, occur in middle to late life in individuals who have no family history of the disease. A less common form, which typically shows itself before age 25, occurs within families. In 1993 scientists found that a gene whose function is to protect cells from certain damaging agents (SOD1) contained mutations in about 20 percent of individuals with the familial type of ALS. But until now, there were no clues as to what happens in the other 80 percent of cases. Two groups of researchers, one lead by Teepu Siddique in the USA, and the other jointly by Michael Hayden in Canada and Joh-E Ikeda in Japan, have identified mutations in a new gene in four families of Arabian origin with familial ALS. While it's not yet known how the protein made by the newly isolated gene functions, the researchers predict that when the protein (which Siddique's group named "alsin") is absent from nerve cells they become damaged and eventually die. Pamela Shaw of the University of Sheffield in the UK discusses the importance of the findings in an accompanying News & Views article. "The field of ASL research is at the start of a new endeavor," she writes. Author contact: Dr. Teepu Siddique Tarry Bldg., Room 13-715 Northwestern University Medical School 303 East Chicago Avenue Chicago, IL 60611 Telephone: 312-503-4737 Fax: 312-908-0865 e-mail: t-siddique@northwestern.edu Author contact: Dr. Joh-E Ikeda Tokai University School of Medicine Japan Science and Technology Corporation NeuroGenes, International Cooperative Research Project Isehara, Kanagawa 259-1193 Japan Telephone: 011 81 463 91 5014 Fax: 011 81 463 91 4993 e-mail: joh-e@nga.med.u-tokai.ac.jp
Author contact: Michael Hayden University of British Columbia Department of Medical Genetics Centre for Molecular Medicine and Therapeutics 950 West 28th Avenue Vancouver, BC V5Z 4H4 Canada Telephone: 604 875 3535 Fax: 604 875 3819 e-mail: mrh@cmmt.ubc.ca Additional contact for comment on paper: Dr. Pamela J. Shaw Academic Neurology Unit E Floor, Medical School University of Sheffield Beech Hill Road Sheffield S10 2RX UK Telephone: + 44 114 2713579 Fax: + 44 114 2760095 e-mail: Pamela.Shaw@sheffield.ac.uk (C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza
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