full-length human dystrophin

Full-length human dystrophin is a large sarcolemmal protein crucial for maintaining muscle membrane integrity. Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), an X-linked recessive disorder characterized by progressive muscle degeneration. Due to its substantial size (2.4 Mb gene, >11 kb cDNA, 427 kDa protein), delivering the full-length dystrophin gene for therapeutic purposes presents significant challenges for gene therapy. Various approaches, including human artificial chromosomes (HACs), piggyBac transposons, and adeno-associated viral (AAV) vectors, are being explored to enable its expression in muscle cells to ameliorate DMD phenotypes.