Pompe’s Circumstance — Dr. Jeffrey Pessin has been awarded $2.5 million from the National Institute of Arthritis and Musculoskeletal and Skin Diseases to study the mechanism of Pompe’s disease. Resulting from deficiency in an enzyme that breaks down glycogen, a storage form of glucose in the liver and muscle that is the major source of energy for cells, Pompe’s disease can cause fatal heart and lung failure in infants. The process by which cells degrade damaged or unused components and molecules is called macroautophagy and late events in this pathway are damaged in this disease. The grant will aid Dr. Pessin’s research into the mechanism of muscle degradation in Pompe’s disease and how defects in macroautophagy contribute to this process. Ultimately, Dr. Pessin aims to design nutritional, exercise, and drug therapies that may help restore proper function in this pathway, which also might be used to treat related diseases. Dr. Pessin is professor of medicine and of molecular pharmacology, director of the Diabetes Research Center, and the Judy R. and Alfred A. Rosenberg Professorial Chair in Diabetes Research.
Posted on: Wednesday, May 08, 2013