MDA has awarded a research grant totaling $375,000 over a period of three years to Susan Hamilton, L.F. McCollum Chair in Molecular Physiology, department of molecular physiology and biophysics at Baylor College of Medicine in Houston. The funds will help support Hamilton’s study of the molecular mechanisms underlying a wide spectrum of muscle disorders including central core disease (CCD) and malignant hyperthermia (MH).
CCD is caused by mutations in the cellular internal calcium release channel (the ryanodine receptor, or RYR1), which lead to an abnormality of calcium release from deep inside muscle fibers, and selective destruction of the cellular energy factories called mitochondria.
Malignant hyperthermia, closely associated with CCD, manifests as a sustained, life-threatening muscle contraction event triggered by certain types of anesthetics, some muscle relaxants or sometimes elevated temperatures.
Using a research mouse model that carries a mutation in the RYR1 gene, Hamilton’s research team will work to identify the processes that lead to mitochondrial destruction in CCD and environmental temperature sensitivity in malignant hyperthermia, with a special focus on the links between mitochondria and the intracellular calcium stores controlled by RYR1.
“MDA has played a major role in my career, beginning with a postdoctoral fellowship many years ago,” Hamilton said. “This fellowship supported my first foray into muscle research and led to my career-long commitment to studying skeletal muscle and skeletal muscle diseases.”
Funding for this MDA grant began August 1, 2011.