MDA awarded a research grant totaling $375,000 over three years to Kevin Campbell, professor of neurology and internal medicine at the University of Iowa in Iowa City. The funds will help support Campbell's study of a process called protein O-mannosylation in a mouse model of congenital muscular dystrophy (CMD).
O-mannosylation is an important protein modification that occurs in mammals. Diseases caused by O-mannosylation defects include severe muscular dystrophies characterized by profound muscle weakness as well as central nervous system impairment. Despite extensive efforts, the genetic causes of most occurrences of these diseases remain unknown.
The only known O-mannosylated protein is alpha-dystroglycan, which works in skeletal muscle to link connective tissue (the extracellular matrix) with the cellular framework or "scaffolding" known as the cytoskeleton.
Campbell aims to identify proteins that play a role in initiating O-mannosylation and then investigate their function in cell culture models. He also is working to generate a new O-mannosylation-deficient mouse model in which to study any newly identified proteins.
There is a critical need for better understanding of the mechanism responsible for this modification to develop new treatment options for O-mannosylation deficient disease, Campbell says. "Besides direct patient health benefits, identification of new players involved in protein O-mannosylation will open new avenues to understand O-mannosylation deficient muscular dystrophies."
Funding for this MDA grant began Aug. 1, 2012.
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