Ayan Banerjee, a postdoctoral researcher in biochemistry at Emory University in Atlanta, Ga., was awarded an MDA development grant totaling $180,000 over a period of three years to study the protein defects that cause oculopharyngeal muscular dystrophy (OPMD).
OPMD affects the muscles that control the eyelids, the swallowing muscles and other muscles. It typically occurs in the fourth or fifth decade of life. The gene that, when defective, causes OPMD encodes a protein called nuclear poly (A) binding protein 1 (PABPN1).
“Although we know that the PABPN1 gene is altered in this disease,” says Banerjee, “we do not understand why this change causes a muscle disease, and we also do not currently have any treatment for this disease.”
Banerjee’s goal is to better understand how the PABPN1 protein is regulated, in order to develop a better understanding of how the gene mutation causes disease. His work will include experiments in cell culture and in a fly model of OPMD. “The fly model is very useful for these studies because we can analyze PABPN1 function in the muscle of a living organism quickly and with limited cost, as compared to genetic mouse models,” he says.
Banerjee will be focusing on structural changes made to the protein after it is created (called post-translational modifications), which are known to help regulate the function of the final protein. One of these modifications, called phosphorylation, may be especially important, as errors in phosphorylation are associated with other forms of muscular dystrophy.
“Drugs correcting these defects result in an improvement in the disease in animal models,” Banerjee points out, suggesting a possible therapeutic target for OPMD as well. “If we can understand how the function of PABPN1 can be modulated, we may be able to develop new therapeutic approaches to treat OPMD.”
Funding for this MDA grant began Feb. 1, 2013.