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