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Neuromuscular Disorders

UMMS is home to the University of Massachusetts Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD (the Wellstone Center), part of a national consortium of institutions focused on this disease. Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder resulting from mutations in the gene DUX4. The UMMS site, directed by Dr. Charles Emerson, conducts studies of patients to identify genetic modifiers affecting disease severity, works to identify biomarkers of the disease, and develop animal models for assessing therapeutic strategies. 

Duchenne muscular dystrophy (DMD) is caused by mutations in the X-linked dystrophin gene.  The main disease-causing mutation is a "nonsense mutation" which creates a premature stop codon in the sequence of the dystrophin gene.  A therapeutic approach that allows the protein synthetic machinery (the ribosome) to ‘read through’ the stop codon would be useful for this disease, as well as many others. UMMS faculty member Allan Jacobson, an expert in protein translational control mechanisms, co-founded PTC Therapeutics, which developed just such a drug. Ataluren (Translarna) has been approved for the treatment of nonsense mutation DMD (nmDMD) in the European Union since 2014, and the U.S. FDA, granted orphan drug designation to ataluren for treatment of nmDMD.  This "read-through" approach shows promise for other diseases caused by non-sense mutations.

 

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