Scan of Entire Human Genome Finds Unexpected New Clues on Lou Gehrig's Disease

04-Dec-2006

A comprehensive scan of the human genome has identified more than 50 genetic abnormalities in people with sporadic amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease), the Muscular Dystrophy Association (MDA) and the Translational genomics Research Institute (TGEN) announced. The most common of these abnormalities have never before been shown to play a role in the disease.

TGen researchers, announcing the findings at an international ALS conference in Japan, said the identified differences implicate genes likely to play a role in cell function that controls nerve adhesion, offering a major new avenue for ALS research. TGen researchers identified the differences by screening DNA samples from over 1,200 people with and 2,000 people without sporadic ALS using state-of-the-art microarray technology by Affymetrix. A new fast-track research funding approach used by MDA and a new microarray technology by Affymetrix that lets researchers quickly scan people's genomes enabled the experiment to be completed in just nine months.

"Our findings indicate these genes produce a sort of molecular glue that attaches motor neurons to muscle. It appears that in ALS the nerve is able to peel off the muscle and, when that happens repeatedly, the nerves die," said Dietrich Stephan, TGen director of Neurogenomics and the study's principle investigator.

According to MDA and TGen, the next steps center around high- throughput screening for drugs that act on the biochemical pathways identified by the DNA screen.

The massive project was funded by a $652,000 grant from MDA's Augie's Quest, a fast-track ALS research program, in collaboration with TGen.

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