Mechanisms and treatment of muscle pathology in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neuromuscular disorder thought of as arising primarily from the deficiency of the SMN protein in motor neurons. Accordingly, current treatments focus on restoring the protein to these cells or the central nervous system. However, recent data suggests that protein deficiency in skeletal muscle also contributes to disease. This proposal investigates the manner in which SMN ensures healthy muscle, examining the cellular and molecular consequences of low protein in the tissue. In particular, experiments center on the role of SMN in muscle stem cells. If successful, the project will cast important light on the role of muscle in SMA and how SMN functions in this tissue to maintain its health. This could lead to new and improved treatments for this most devastating of pediatric diseases.