Researchers from the U.S. and the Netherlands have identified a DNA sequence that points to a cause of a form of muscular dystrophy called facioscapulohumeral dystrophy (FSHD).

The sequence in FSHD patients causes the gene DUX4, which produces a protein that is toxic to muscle cells, to become more active. The finding, published in the August issue of Science, indicates that the gene is key to the development of the disease.

"In contrast to most genetic diseases, knowledge of the genetic mutation did not explain the cause of the disease," said Dr. Stephen Tapscott, of the Human Biology Division at the Hutchinson Cancer Research Center. "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…These new findings provide a single, testable hypothesis."

Researchers from the University of Leiden in the Netherlands, which led the study, worked with those from the Hutchinson Center, the University of Washington and the University of Rochester Medical Center.

Within the North Shore-LIJ Health System, the Neuromuscular and Peripheral Nerve Disease Program addresses diseases that affect the peripheral nervous system such as muscular dystrophy, Bell's palsy, amyotrophic lateral sclerosis (ALS) or Lou Gehrig's Disease and myasthenia gravis.