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Grant allows scientist to test potential target for muscular dystrophy therapy

Michael Kyba, Ph.D.

Scientist Michael Kyba, Ph.D., and his lab team got a boost last month when they received a $375,000 research grant from the Muscular Dystrophy Association.

Kyba’s new study on a gene named DUX4 and its impact on facioscapulohumeral muscular dystrophy (FSHD) is now under way. It is focused on developing ways to inhibit the expression of the DUX4 gene or inhibit activity of the DUX4 protein and then testing these as potential therapies for treating mice that carry the human DUX4 gene.

FSHD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is usually passed from generation to generation. Disease severity ranges widely from person to person, but FSHD typically progresses slowly although there may periods of rapid deterioration.

“We have been testing the hypothesis that DUX4 is responsible for FSHD,” Kyba explains. “There is accumulating evidence from genetic studies to show that DUX4 is an important factor in FSHD—perhaps the cause itself.”

Kyba’s team thinks that, in people who have FSHD, the DUX4 gene interferes not with the muscle cells themselves but with the muscle stem cells, so the body is unable to repair itself after normal damage and wear-and-tear.

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