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International Research Team Closes In On Cause of Common Form of Muscular Dystrophy
Date:8/20/2010

SEATTLE, Aug. 20 /PRNewswire/ -- An international team of researchers that includes investigators from Fred Hutchinson Cancer Research Center has made a critical advance in determining the cause of a common form of muscular dystrophy known as facioscapulohumeral dystrophy, or FSHD.

They have identified a DNA sequence in individuals with FSHD that causes a gene called DUX4 to be more active. Previous work from this research team and others has shown that this gene produces a protein that is toxic to muscle cells, and the current study indicates that it is likely to be key to developing FSHD. This finding points to potential new drug targets for treating - or potentially curing - FSHD, a progressive condition characterized by progressive wasting of muscles in the upper body.

The findings, published in the Aug. 20 issue of Science, shed new light on how a genetic mutation identified nearly 20 years ago causes the disease. The mutation is associated with the majority of FSHD cases, which affects some 300,000 people worldwide.

Researchers at the University of Leiden in the Netherlands led the study in collaboration with co-authors Stephen Tapscott, M.D., Ph.D., at the Hutchinson Center; Dan Miller, M.D., Ph.D., at the University of Washington; and Rabi Tawil, M.D., at the University of Rochester Medical Center, among others.

"In contrast to most genetic diseases, knowledge of the genetic mutation did not explain the cause of the disease," said Tapscott, a member of the Human Biology Division at the Hutchinson Center and an expert in neurogenetics and neuromuscular disease. "Although many different models and hypotheses were proposed for how the FSHD mutation might cause the disease, none had sufficient experimental support to attain legitimacy, which resulted in controversy and slow progress in FSHD research. These new findings provide a single, testable hypothesis," Tapscott said.

The research group identified a DNA variation, or po
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SOURCE Fred Hutchinson Cancer Research Center
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