MDA awarded $180,000 to Ji-Yeon Shin, a research scientist at Columbia University Medical Center, New York, for continued study of the molecular mechanisms that underlie Emery-Dreifuss muscular dystrophy (EDMD).

"EDMD is an inherited disease of skeletal muscle and heart. Although diagnosis has been improved by the discovery of the most common genetic mutations that cause EDMD, we still have a poor understanding of how these mutations cause muscular dystrophy," Shin said.

Shin's lab previously has discovered that proteins produced from instructions carried by the mutated genes in most cases of EDMD interact with another protein, called LAP1 (lamina-associated polypeptide 1), whose function as yet remains unknown. Shin's team has engineered a new "muscle specific LAP1 knockout" mouse that exhibits symptoms that mimic those in EDMD and has potential therefore to be used as an EDMD research mouse model.

In addition to further characterizing the mouse, Shin's new work will include investigation into how the LAP1 protein affects muscle cell function in mouse and human cultured cells, and in living mice.

The team hopes to generate a better understanding of how specific genetic mutations cause EDMD, which should enable it to identify new processes, such as cell signaling pathways, that could be targets for the development of novel drugs to treat the disease.

"I am very happy to be selected as a Development Grant awardee, and I have great hopes for what I can achieve from the current project funded by MDA," Shin said. "The previous results that have been generated in the last two years built up exciting groundwork. Now the support of MDA will bring this project to the next level and allow us to study cellular mechanisms that underlie the development of Emery-Dreifuss muscular dystrophy."

For more information read MDA's press release.

Funding for this MDA grant began August 1, 2010.