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ALS Gene Discovery Could Open Door to New Treatments

March 3, 2009

An international consortium of scientists supported by the ALS Association has identified a new gene that may be responsible for about five percent of all inherited cases of amyotrophic lateral sclerosis (ALS), a progressive disease affecting nerve cells in the brain and spinal cord.

Often called Lou Gehrig’s disease, the condition is generally fatal within two to five years of diagnosis.

The new gene, which has been dubbed ALS6, joins several other genes identified over the past few years. SOD1, found in 1993, is said to be responsible for about 20 percent of inherited cases, while TARDP may account for another four or five percent.

Overall, about 10 percent of ALS cases are chalked up to heredity. The other 90 percent occur in people with no family history of the condition.

The ALS6 gene was found by studying families with inherited ALS. Normally, this gene makes a protein that works inside the nucleus of a cell. In people with the mutated version, this protein clusters outside the nucleus instead. The next step, report the investigators, will be to create cell and animal models of the gene to find out how it may be leading to the development of ALS.

The identification of ALS genes is important, says the ALS Association, because knowing more about how ALS develops could pave the way for new and better treatments for the condition.

SOURCE: Science, published online February 26, 2009

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