Grace Pavlath, professor of pharmacology at Emory University in Atlanta, Ga., was awarded an MDA research grant totaling $100,000 over a period of one year to characterize a more accurate mouse model of oculopharyngeal muscular dystrophy (OPMD).
OPMD is an adult-onset disease characterized by eyelid drooping and difficulties in swallowing, as well as weakness in the thighs and upper arms. The mutation responsible for the disease is found within a gene called PABPN1, which regulates expression (activity) of other genes. In the most common form of the disease, called autosomal dominant OPMD, those who are affected carry one mutated copy of the gene and one normal copy.
However, Pavlath says, current mouse models of OPMD contain two normal alleles of PABPN1 in addition to one mutant allele of PABPN1, meaning there is a higher level of normal PABN1 protein made in these mice than in humans with the disease. “Thus, these mouse models do not accurately reflect the genotype of OPMD patients,” she says.
Now, Pavlath has created a mouse model that is closer to the human situation, permitting her to conduct experiments to better characterize the effects of the mutation in this model.
“These mice will be the first opportunity to accurately model this disease in mice and could provide a tool both for understanding how the disease affects muscle and for finding therapies to treat the disease,” she says.
Funding for this MDA grant began August 1, 2013.