MDA awarded a research grant totaling $415,092 over a period of three years to Laura Ranum, professor of molecular genetics and microbiology at the University of Florida in Gainesville.
The funds will help support Ranum's research into the role of a phenomenon called Repeat Associated Non-ATG translation (RAN translation) in myotonic dystrophy (MMD, or DM1).
Ranum and colleagues have discovered a new mechanism, RAN translation, by which repeat sequences (series of repeated segments of DNA) direct protein synthesis in the absence of normal regulatory signals. Evidence suggests that RAN translation results in the production of unexpected mutant proteins in myotonic dystrophy.
In her new work, Ranum and colleagues plan to determine how many of these unexpected proteins are made in myotonic dystrophy, which cells in the body are able to make them, and what effects they have on the disease.
"We have demonstrated that RAN translation occurs in cell culture and in animal models of type 1 myotonic dystrophy, and in tissues from human patients," Ranum said. "We must now consider the effects that these newly discovered mutant proteins could have on the disease."
Funding for this MDA grant began February 1, 2012.
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