Teams closing in on gene behind form of muscular dystrophy

While exactly which gene actually causes facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited form of dystrophy, isn't clear, researchers at the Fred Hutchinson Cancer Research Center are looking at the gene for the DUX4 transcription factor as a potential candidate.

The symptoms of FSHD affect the upper body and can start with eyelid drooping and inability to whistle. People then develop arm and upper body weakness, and this can even affect walking if the symptoms are severe. Fortunately, for most people, the disability is minor.

When the researchers looked at muscle cells, the DUX4 genes were active in the cells from people with FSHD but not in the cells from healthy people, which suggests that changes in this gene could contribute to causing the disease—the evidence of the genetic link was described by one of the researchers as "about as strong of evidence as you can get."

"This study is a significant step forward by solidifying that the DUX4 transcription factor causes this disease, while offering a number of viable mechanisms for why the muscle is damaged," said corresponding author Dr. Stephen Tapscott, Ph.D., a member of the Hutchinson Center's Human Biology Division.

The identification of this biomarker could lead to possible diagnostics for FSHD, both to identify the disease and to check its progression, as well as support for the development of drugs to treat the disorder. Because DUX4 is also linked with cancer, its identification could also help the development of cancer immunotherapies and vaccines.

- read the press release
- check out the abstract in Developmental Cell