Genetic Mutation Tied to ALS

Mutation May Make Amyotrophic Lateral Sclerosis (ALS), or Lou Gehrig's Disease, More Likely

Medically Reviewed by Louise Chang, MD on August 22, 2007
From the WebMD Archives

Aug. 22, 2007 -- New research ties amyotrophic lateral sclerosis (ALS), commonly called Lou Gehrig's disease, to a certain gene mutation.

That news comes from researchers including Travis Dunckley, PhD, of the Translational Genomics Research Institute in Phoenix.

ALS is an incurable, progressive degenerative neurological disorder. For reasons that are not understood, the nerve cells of the brain and spinal cord that control voluntary muscle movement gradually deteriorate in ALS. As a result, muscles waste away, leading to paralysis and death, usually in two to five years.

Dunckley and colleagues compared the DNA of 386 ALS patients with the DNA of 542 people without ALS.

The ALS patients were 35% more likely than people without ALS to have variations near a gene called FLJ10986. Scientists don't know much about what that gene does.

Dunckley's team also noticed 50 other genetic variations that were associated with ALS, but to a lesser degree than variations near the FLJ10986 gene.

The study doesn't prove that those gene variations cause ALS. So far, gene studies "raise more questions than they answer," writes Richard Orrell, MD, in an editorial published with the study in tomorrow's edition of The New England Journal of Medicine.

Orrell works at the Institute of Neurology at University College London.

WebMD Health News


SOURCES: Dunckley, T. The New England Journal of Medicine, Aug. 23, 2007; vol 357: pp 775-788. WebMD Medical Reference: "Understanding ALS -- the Basics." Orrell, R. The New England Journal of Medicine, Aug. 23, 2007; vol 357: pp 822-823.

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