Gene mutation found for a form of juvenile-onset motor neur...( Researchers have discovered a genetic m...)

In studying families affected by the disease, researchers detected a mutation in the Senataxin gene. Although this gene's exact function is unknown, scientists think the normal Senataxin gene may play a role in how cells rid themselves of faulty genetic messages during RNA processing, according to Dr. Craig Bennett, University of Washington (UW) research assistant professor of pediatrics, Division of Genetics and Developmental Medicine. The mutation may make it difficult for motor neuron cells to clear out mistakes made during encoding of DNA, and thereby contribute to the degeneration of these nerve cells.

The disease studied is a rare type of amyotrophic lateral sclerosis (ALS). Patients with this type of ALS have mild symptoms, a slow progression of muscle weakness, a normal life span, and relatives with the same disorder. In contrast, most ALS disorders appear in middle age or later life and cause paralysis and death within a few years. Only 10 percent of ALS disorders run in families; the rest appear sporadically. ALS claimed the life of baseball star Lou Gehrig, and is often called Lou Gehrig's disease.

Locating the gene took scientists about seven years of difficult work. While the inherited juvenile type of ALS is rare, Dr. Phillip Chance, UW professor of neurology and pediatrics, said that finding the mutated gene opens up avenues of investigation for motor neuron diseases in general. Learning more about the biological repercussions of the mutation may lead to insights on how motor neurons are damaged in other forms of ALS.

"After scientists figure out what protein the normal gene produces and what this protein does in normal cells," Chance said, "they may determine how the mu
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Contact: Leila Gray
leilag@u.washington.edu
206-543-3620
University of Washington
19-Apr-2004