Aymeric Ravel-Chapuis, a research scientist at the University of Ottawa, Canada, was awarded $179,850 to study the role of a protein called Staufen1 in type 1 myotonic muscular dystrophy (MMD1, or DM1).
DM1 is caused by an expanded section of DNA in the DMPK gene. This stretch of DNA causes expansion of RNA (DNA's chemical cousin, and the product of one of a series of steps involved in the cell's protein-building process). The flawed RNA becomes trapped in the cell nucleus where it accumulates and becomes toxic, preventing other proteins from carrying out their normal functions in protein synthesis.
In preliminary studies, Ravel-Chapuis and his investigative team showed that Staufen1 protein levels play an important role in the DM1 disease process. Now, the group will focus their efforts on uncovering the molecular mechanisms linking the Staufen1 protein to the complex symptoms of DM1.
The team will use a cell culture model engineered to carry a large DNA expansion, which models cellular characteristics in DM1 including buildup in the cell nucleus of the expanded RNA. Investigators will introduce different Staufen1 mutations to see which ones affect RNA activity or cause mislocation of the Staufen1 protein in the cell.
Additionally, the group will test and analyze muscle fibers from several different DM1 mouse models and controls in order to determine the amount and location of Staufen1 protein in normal and diseased muscle. The next step, Ravel-Chapuis said, is "to determine whether the anticipated changes in Staufen1 activity also occur in muscle from DM1 patients."
"My laboratory has been funded on several occasions by MDA, and each time it has been a great help for our research," Ravel-Chapuis said. "I think that MDA funding is very important to develop research, and to speed the development of treatments and cures for neuromuscular diseases."
For more information read MDA's press release.
Funding for this MDA grant began August 1, 2010.