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University of Washington Team Links Mutation to Rare, Sporadic Form of ALS

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A team of researchers from the University of Washington claims to have identified a gene mutation they believe may contribute to an inherited, early-onset form of amyotrophic lateral sclerosis.

Discovering this mutation may lead to insight into the way in which defective motor neurons can damage other kinds of ALS, and “open up” new kinds of pharmacogenomics-based research 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.

Although scientists continue to debate the function of the gene, called Senataxin, they believe its wild type may play a role in how cells “rid themselves of faulty genetic messages during RNA processing,” according to Craig Bennett, assistant professor of pediatrics at UW’s division of genetics and developmental Medicine. Specifically, the mutation “may make it difficult” for motor neuron cells to “clear out mistakes” when DNA is coded, and contribute to the degeneration of these nerve cells.

To arrive at its findings, the team, led by Phillip Chance, a UW professor of neurology and pediatrics, studied a rare type of ALS that manifests in younger individuals and is associated with mild symptoms, a slow progression of muscle weakness, a normal life span, and relatives with the same disorder.

In contrast, most common forms of ALS, which is commonly referred to as Lou Gehrig’s disease, appear in middle age or later in life and cause paralysis and death within a few years. Plus, it is known that 10 percent of ALS disorders run in families; the rest appear sporadically, according to the researchers.

After scientists figure out what protein the normal gene produces and what this protein does in normal cells, they may determine how the mutation disturbs cellular functions in ALS patients,” Chance said in a statement. “We need to know more about the underlying basis of motor neuron degeneration to design rational treatments, to prevent the onset of ALS, or to slow down the rate of cell degeneration and subsequent disability.”

Bennett added that research into the function of the normal protein and the “defective” gene would likely be performed in yeast cells and transgenic animal models.

The scientists’ findings are slated for publication in the American Journal of Human Genetics.

— KL

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