MDA has awarded a research grant totaling $435,000 over three years to Mani Mahadevan, professor in the department of pathology, medical director of the molecular diagnostics lab and associate director of the cytogenics lab at the University of Virginia in Charlottesville. The new funds will help support Mahadevan’s study of the underlying molecular mechanisms in type 1 myotonic muscular dystrophy (MMD1, or DM1).

MMD1 is caused by an expanded section of DNA in the DMPK gene that results in the accumulation of mutated DMPK RNA (the chemical step between DNA instructions and protein production) in the cell’s nucleus. These "RNA foci" are thought to lead to RNA toxicity by affecting the function of RNA binding proteins that interact with the toxic RNA, disrupting normal RNA processing.

Using muscle cells taken from research mouse models and MMD1-affected individuals, Mahadevan and colleagues plan to examine the interactions in MMD1 between a number of particular proteins and DMPK RNA.

Mahadevan’s work potentially may lead to a greater understanding of the molecular mechanisms that drive MMD1, which will further inform researchers’ efforts to design therapeutics to combat the disease.

"MDA has funded research in my lab since 1998, and often has been the first agency to fund our research at its earliest stages," Mahadevan said. "I am sincerely grateful for the trust and confidence the Association has placed in us and our research."

Funding for this MDA grant began February 1, 2011.