Renzhi Han, assistant professor of physiology at Loyola University Medical Center in Maywood, Ill., received an MDA grant totaling $405,000 to study mutations in the dysferlin gene that lead to development of several types of muscle diseases known as "dysferlinopathies," including type 2B limb-girdle muscular dystrophy (LGMD).
Previous studies have shown that inflammation, a component of the "innate immune system," is prominent in muscle samples deficient in dysferlin protein. (The innate immune system specializes in providing immediate defense against infection in the body. By contrast, the adaptive immune system specializes in building up protective immunity.)
Han speculates that an attack carried out by the innate immune system might play a role in the onset and progression of muscle diseases that result from dysferlin mutations, and that disabling this immunological response may ameliorate the symptoms of muscular dystrophies caused by dysferlin deficiency.
The investigators will use research mouse models deficient in both dysferlin and the innate immune system to test their hypothesis. The team also will study whether increasing the activity of a biochemical inhibitor of the immune system has any effect on disease progression in dysferlin-deficient mice.
"This research will enable us to accomplish the critical step in our goal to design a therapy for dysferlin-deficient muscular dystrophy," Han said. "This work could not go further without the support of MDA."
Funding for this MDA grant began August 1, 2010.