Dystrophin protein (Dystrophin)

Dystrophin is a large cytoskeletal protein encoded by the *DMD* gene on the X chromosome. It functions as an essential mechanical stabilizer in skeletal and cardiac muscle cells, connecting the internal actin cytoskeleton of muscle fibers to the extracellular matrix via the dystrophin-associated protein complex (DAPC). Dystrophin plays a critical role in protecting muscle cells from contraction-induced injury by anchoring actin filaments to the plasma membrane and ensuring sarcolemma stability. Loss-of-function mutations in dystrophin cause Duchenne and Becker muscular dystrophies, leading to progressive muscle degeneration and weakness[1][4][7]. AAVrh74-mediated micro-dystrophin gene transfer is a therapeutic strategy for Duchenne muscular dystrophy (DMD), using an adeno-associated virus vector (AAVrh74) to deliver a shortened functional dystrophin (micro-dystrophin) gene to muscle tissue. This therapy aims to restore dystrophin function in skeletal and cardiac muscle, improve muscle stability, and slow disease progression. Micro-dystrophin is engineered to retain key functional domains necessary for membrane stabilization and protein complex formation while being small enough for efficient AAV packaging and delivery[2][5][8].

Other names

DMD proteinDystrophin-associated proteinRod domain protein

Gene transfer (AAV-mediated), Restoration of dystrophin function in muscle, Cell membrane stabilization