Susan Brown, a reader (equivalent to associate professor) in translational medicine at the Royal Veterinary College in London, has been awarded an MDA grant totaling $356,838 over three years. The grant will help support Brown's research on muscular dystrophies related to mutations in the gene for fukutin-related protein (FKRP).

Mutations in this gene cause certain forms of congenital muscular dystrophy (CMD) and the type 2I form of limb-girdle muscular dystrophy (LGMD).

"We previously generated mice that display a marked reduction in expression levels of FKRP protein," Brown said. "These animals display problems with their muscles, eyes and brain that are similar to those of patients with FKRP gene mutations at the severe end of the clinical spectrum. However, these animals die around the time of birth because of the reduction of FKRP in the central nervous system. In order to circumvent this problem, we have now crossed these mice with lines that will replace FKRP in the central nervous system but not in the muscle, thus providing us with a mouse model of type 2I LGMD."

Brown's group will use this mouse model to determine whether some of the therapeutic approaches proposed for various types of muscular dystrophy may be applied to FKRP-related muscular dystrophies.

"MDA funding underpins work in my laboratory and has done so for the past three years," Brown said. "In the absence of this support, we would understand less about the complexity of FKRP-associated disease. Our recent award provides us with the exciting possibility of developing a means to intervene in a group of diseases for which there are currently no treatments."

Funding for this MDA grant began August 1, 2011.