Gene Linked to Lou Gehrig’s Disease
Study Shows Genetic Link to Non-Familial Amyotrophic Lateral Sclerosis
WebMD News Archive
Dec. 17, 2007 -- A newly discovered genetic link to Lou Gehrig's disease may
help researchers better understand the untreatable and fatal disease.
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is
a progressive disease caused by the wasting away of brain and spinal cord cells
that control voluntary muscle movements.
A new study shows a mutation in the gene DPP6 was consistently found among
four different groups of people with the disease and increased the risk of the
disease by about 30%.
Although previous studies have identified genetic mutations associated with
rare cases of ALS disease that run in families, attempts to find a genetic link
to non-familial ALS (about 90% of ALS cases) have been unsuccessful until
Genetic Link to ALS
In the study, published in Nature Genetics, researchers compared the
genetic makeup of more than 1,700 people with Lou Gehrig's disease and 1,900
healthy individuals in the Netherlands, Sweden, Belgium, and the U.S.
The results showed a single mutation of the gene DPP6 was associated with
ALS in each group, increasing the risk of the disease by about 30%.
Researchers say it's the first genetic link to the sporadic form of ALS.
It's also the first to be found consistently in different populations.
Researcher Michael A. van Es, of University Medical Center in Utrecht,
Netherlands, and colleagues say DPP6 encodes a protein-like enzyme found
primarily in the brain. Overexpression of this gene has been found in response
to spinal cord injury in rats. The researchers state that more study is needed
to learn more about how this genetic variation increases susceptibility for the