MDA has awarded a research grant totaling $53,358 to Mark Rich, an associate professor at Wright State University in Dayton, Ohio. The new funds will help support Rich’s study of the disease process in myotonia congenita (MC).
MC is an inherited muscle disease in which muscle is stiff because it contracts too much. The cause of stiffness is a mutation in a protein that is involved in electrical signaling in muscle.
Rich and colleagues plan to study a particular clinical feature of MC: While patients exercise, their muscle stiffness lessens. The effect is temporary and reverses after exertion. The team will work with a mouse model of MC that, like humans with the disease, experiences muscle stiffness that decreases with exercise.
Rich’s goal is to determine the molecular mechanisms underlying the exercise effect in MC. His team hypothesizes that a single protein may be responsible for "turning on" during exercise and causing the reduction in stiffness. If findings from the work identify such a protein, then it potentially could be targeted and manipulated into turning on all the time, providing symptomatic relief to individuals with the disease.
The investigators will test the drug in the mouse and observe whether it reduces their stiffness.
"MDA funding is critical to the success of this project," Rich said.
Funding for this MDA grant began February 1, 2011.