-- Robert Preidt
TUESDAY, April 1, 2014 (HealthDay News) -- A new gene mutation
associated with amyotrophic lateral sclerosis -- also known as ALS
or Lou Gehrig's disease -- has been identified in a study led by
the U.S National Institute on Aging (NIA).
ALS is a fatal degenerative condition that kills nerve cells,
resulting in weakness and paralysis. Patients typically die from
respiratory failure. About 10 percent of ALS patients have a
directly inherited form of the disease, according to the NIA.
In the study, published online March 30 in
Nature Neuroscience, researchers analyzed DNA from families
with several members who'd been diagnosed with ALS. The analysis
revealed that a number of people in those families had a mutation
in a gene called Matrin 3.
The investigators also discovered that Matrin 3 interacts with a
protein that binds to RNA and whose mutation is known to cause ALS,
according to the study published online March 30 in
"The identification of this gene mutation gives us another target to explore in the [development] of this disease," senior author Dr. Bryan Traynor, of the laboratory of neurogenetics at the NIA, said in an agency news release.
"It also provides additional evidence that some disruption in RNA metabolism, an essential process within all cells, is involved in neuron death in ALS," he added.
Each year, about 6,000 Americans die from ALS.
The U.S. National Institute of Neurological Disorders and Stroke
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