Gene Linked to Lou Gehrig’s Disease

Study Shows Genetic Link to Non-Familial Amyotrophic Lateral Sclerosis

Medically Reviewed by Louise Chang, MD on December 17, 2007
From the WebMD Archives

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 now.

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 disease.

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SOURCES: van Es, M. Nature Genetics, Dec. 16, 2007, advance online edition. News release, Nature Research Journals.

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