MDA awarded $330,000 to professor of medicine Ju Chen at the University of California, San Diego, for research into the role of a protein called Cypher in skeletal muscle function and disease.

Mutations in Cypher result in myofibrillar myopathy (MFM) and late-onset distal myopathy, and results from completed studies in people with myotonic muscular dystrophy (MMD, or DM) indentified flawed Cypher isoforms (different forms of the same protein) in skeletal muscle tissues. Cypher activity also has been shown to be significantly decreased in mice exhibiting skeletal muscle atrophy.

"These observations suggest that Cypher plays essential roles in skeletal muscle function and disease," Chen said. "A better understanding of the function of Cypher in its various forms is key to developing therapies for Cypher-based MFM and potentially other myopathies."

In its work to understand the role of Cypher in skeletal muscle function and gain insight into the mechanisms by which mutations in Cypher cause skeletal muscle myopathy, the Chen research team will conduct experiments using three different genetically manipulated mouse models: an adult mouse lacking Cypher in skeletal muscle; mice lacking a short form of Cypher; and mice lacking a long form of the protein. Analysis will include comprehensive biochemical and functional evaluation, as well as evaluation of the microscopic structure of cells in skeletal mouse muscle tissue.

"Without funding from MDA, it would not be possible to perform these important studies," Chen said.

For more information read MDA's press release.

Funding for this MDA grant began August 1, 2010.