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International Research Team Closes In On Cause of Common Form of Muscular Dystrophy

August 20, 2010 By Bio-Medicine.Org

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

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