Robert Dirksen, professor of pharmacology and physiology at the University of Rochester Medical Center in Rochester, N.Y., was awarded an MDA research grant totaling $300,000 over a period of three years to evaluate calcium transport as a target for central core disease (CCD).
CCD is an inherited muscle disease that causes poor muscle tone and weakness, susceptibility to heat-related illnesses, and a risk of malignant hyperthermia, a dangerous reaction to certain anesthetic drugs. One cause of CCD is a defect in a muscle protein called the type 1 ryanodine receptor, which regulates the releases of stored calcium in the muscle. This release of calcium is critical for normal muscle contraction. Dirksen is working with a mouse model of CCD that carries a defect in the receptor. He will be exploring whether altering the receptor’s function with drugs or other means can ameliorate the disease in this model. In the process, he hopes to better define the pathways that lead to muscle damage in the disease.
“This project will define specific pathways that mediate core myopathy and muscle heat generation, and couple these fundamental advancements toward the testing and development of new drug interventions,” Dirksen says. “The benefits include an evaluation of the efficacy of targeted therapeutic interventions for the prevention of core myopathy and heat-induced sudden death in an established mouse model, and the likelihood that the results will lead to the first drug therapy for CCD and heat-related illness in humans.”
Funding for this MDA grant began August 1, 2013.