Title:Structure-function of dystrophin and utrophin in muscular dystrophy


Muscular dystrophy refers to a group of degenerative diseases that cause progressive muscle weakness. Duchenne/Becker muscular dystrophy accounts for more than half of all known cases. Symptoms that include constant falling, waddling, and outturned knees appear as early as age two. During the extreme phase, patients are unable to sit upright, move their arms or legs, or breathe on their own. Patients' life spans rarely exceed early to mid-twenties due to cardiac or respiratory failure. Genetic mutations in a vital muscle protein dystrophin trigger the disease. Utrophin is the closest homologue of dystrophin, and is being investigated as a possible replacement therapy to treat patients. In this talk, I will discuss the molecular mechanisms of the disease trigger and treatment at the fundamental protein level. Such knowledge will ultimately lead to the development of more effective therapies, which include engineered proteins and small molecules.