Muscle Loss and Reduced Physical Performance in Emery–Dreifuss Muscular Dystrophy: Preclinical Findings

Synopsis

Autosomal Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA), which encodes nuclear envelope proteins. The disease typically causes muscle wasting and weakness, joint contractures, and heart problems, though muscle involvement varies. Previous studies with Lmna^H222P/H222P mice, a model for EDMD, showed altered signaling pathways in heart and muscle, and blocking these pathways improved heart function. This study found that these mice also have significant loss of lean muscle mass and impaired physical performance, including reduced VO2 peak and altered respiratory exchange ratio. These findings reveal decreased overall physical capacity in the model and provide a new way to evaluate future treatments for EDMD.

Journal

Human Molecular Genetics