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Gene that causes some cases of familial ALS discovered
Date:12/9/2010

Using a new gene sequencing method, a team of researchers led by scientists from Johns Hopkins and the National Institutes of Health has discovered a gene that appears to cause some instances of familial amyotrophic lateral sclerosis (ALS). The finding could lead to novel ways to treat the more common form of this fatal neurodegenerative disease, which kills the vast majority of the nearly 6,000 Americans diagnosed with ALS every year.

Researchers don't know exactly what causes ALS, which destroys the motor neurons that control the movement of all the body's muscles, including those that control breathing. However, studies into the familial form of the disease, which affects 5 percent to 10 percent of those diagnosed with the disease, could shed some light on why motor neurons die in all types of ALS, says study leader Bryan J. Traynor, M.D., an assistant professor in the Department of Neurology at the Johns Hopkins University School of Medicine and chief of the Neuromuscular Diseases Research Group at the National Institutes of Health.

"If you look at the spectrum of diseases caused by dysfunctional genes, our knowledge of almost all of them has grown out of the familial form of those diseases," Traynor says. By finding the genes associated with those diseases, he says, researchers can insert the causative genes in animals, creating models that can help them decipher what takes place to cause pathologies and develop ways to stop them.

Scientists were already aware of a handful of genes that appear to cause some cases of familial ALS. In the new study, published in the Dec. 9 issue of the journal Neuron, Traynor and his colleagues used a new technique known as exome sequencing to search for more. This new technique differs from the more common type of gene sequencing since it focuses only on the 1 percent to 2 percent of the genome that codes for proteins and ignores the remaining, non-coding DNA. Exome sequencing also seque
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Contact: Christen Brownlee
cbrownlee@jhmi.edu
410-955-7832
Johns Hopkins Medical Institutions
Source:Eurekalert

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