Duchenne muscular dystrophy: pathogenesis and promising therapies

Duchenne muscular dystrophy (DMD) is a progressive disease that causes severe muscle wasting and loss of mobility. It is primarily caused by mutations in the dystrophin gene, leading to a deficiency of dystrophin protein. The absence of dystrophin makes muscle cells vulnerable to damage and triggers a cascade of pathological changes. This includes oxidative stress injury, dysregulated calcium balance, instability of the muscle cell membrane, impaired neuromuscular junction, and abnormal muscle satellite cell differentiation. It also affects other organs and hampers muscle regeneration due to a deteriorating microenvironment.