Dr. Silvère van der Maarel
After their recent publication in Science, the same international research collaboration that includes research groups funded by the Friends of FSH Research has made further advancements in our understanding of the molecular cause of facioscapulohumeral dystrophy (FSHD). While their earlier work reported in Science provided genetic evidence that expression and stabilization of DUX4 is critically important for the development of FSHD, the recent report in PLoS Genetics provides an answer as to how a gene expressed at such low concentrations can be toxic to muscle. Low expression of DUX4 can either mean that all muscle nuclei express tiny amounts of the toxic DUX4 protein or that only few out of many nuclei express high levels of DUX4. In this report, the scientists provide compelling evidence for the latter scenario. This finding is important as it provides a model in which occasional bursts of DUX4 in muscle of patients with FSHD can explain the progressive nature of this disease. It also provides a clear target for the design of therapeutics for FSHD.
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