Scientists are closer to understanding what triggers muscle damage in one of the most common forms of muscular dystrophy, called facioscapulohumeral muscular dystrophy (FSHD).
FSHD affects about 1 in 20,000 people, and is named for progressive weakness and wasting of muscles in the face, shoulders and upper arms. Although not life-threatening, the disease is disabling. The facial weakness in FSHD, for example, often leads to problems with chewing and speaking.
The new research was funded in part by the National Institutes of Health and appears in the journal Science. Until now, there were few clues to the mechanism of FSHD and essentially no leads for potential therapies, beyond symptomatic treatments, said John Porter, Ph.D., a program director at NIH's National Institute of Neurological Disorders and Stroke (NINDS).
"This study presents a model of the disease that ties together many complex findings, and will allow researchers to test new theories and potential new treatments," Dr. Porter said.
In the early 1990s, researchers found that FSHD is associated with a shortened DNA sequence located on chromosome 4. Experts predicted that discovery of one or more FSHD genes was imminent, but while a handful of candidate genes gradually emerged, none of them were found to have a key role in the disease.
The mysteries surrounding FSHD deepened in 2002 when researchers, led by Silvere van der Maarel, Ph.D., at Leiden University in the Netherlands, found that the shortened DNA sequence on chromosome 4 is not enough to cause FSHD. They discovered that the disease occurs only among people who have the shortened DNA sequence plus other sequence variations on chromosome 4. That work was funded in part by NIH, the FSH Society and the Muscular Dystrophy Association.
The new study proposes a model that explains how the previous findings fit together. The study was led by Dr. van der Maarel in collaboratio
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NIH/National Institute of Neurological Disorders and Stroke