Science close to cause, cure for muscular dystrophy

GHN News Editor  - An international team of researchers 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.

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