MDA has awarded a research grant totaling $278,570 over three years to Jasprina Noordermeer, a professor in the department of molecular cell biology at Leiden University Medical Center in the Netherlands. The grant will support Noordermeer's studies of the role of dystrophin in the brain. The dystrophin protein is absent or deficient in boys with Duchenne muscular dystrophy (DMD).
The role of dystrophin in skeletal muscles is fairly well-understood, and its absence in DMD leads to the progressive weakness seen in this disease. A great deal is also known about the role of this protein in cardiac muscle, where its absence leads to cardiac muscle abnormalities (cardiomyopathy) in DMD.
It's also known that dystrophin is normally present in the brain, and that at least some DMD patients have cognitive disabilities. However, little is known about the role of dystrophin or the effects of dystrophin deficiency in the brain.
Ultimately, Noordermeer says, treatments for DMD should reverse both muscle loss and the cognitive deficits associated with this disease, but how the lack of dystrophin results in defects at the connections ("synapses") where nerve cells interact with each other is unclear.
She and her colleagues will study the role of dystrophin and dystrophin deficiency in the brain in dystrophin-deficient flies and mice.
"MDA funding is critical to allow us to further our understanding of the functions of dystrophin and its [molecular] partners at the synapse," Noordermeer said. "We particularly appreciate MDA's commitment to funding research in model organisms directed toward unraveling DMD-associated dysfunctions."
Funding for this MDA grant began August 1, 2011.