Optimization of an in vitro model to study Duchenne Muscular Dystrophy

Abstract

Duchenne Muscular Dystrophy (DMD) is the most common inherited muscle disease, affecting 1 out of 5000 male live births. DMD pathology results from genetic and biochemical defects in the dystrophin-glycoprotein complex causing membrane instability, and accordingly, muscle fragility, apoptosis and abnormal calcium levels. To date, a clear understanding of the pathophysiology behind DMD remains elusive. Taking advantage of reprogramming technology to derive large numbers of DMD patient-specific myogenic cells, we aim to generate a comprehensive in vitro model system to study molecular and physiological aspects associated with different DMD mutations.