DMD

DMD, or Duchenne muscular dystrophy, is an X-chromosome recessive disorder caused by mutations in the DMD gene, which is located in the Xp21.1-3 region of the X chromosome and encodes the antimyotrophic protein dystrophin.The mechanism of action of DMD is primarily due to the absence or abnormal function of the dystrophin protein, which results in impaired stability of the myocyte membrane, which in turn triggers necrosis and inflammatory response of muscle fibres. In terms of signalling, the pathogenesis of DMD involves a variety of signalling pathways, including an imbalance in calcium regulation within the muscle cell, activation of inflammatory cytokines, and the TGF-β signalling pathway associated with the fibrotic process. Biologically, DMD is critical for the maintenance and function of muscle tissue, and its abnormalities usually lead to progressive muscle degeneration and weakness, which severely affects the patient's exercise capacity and quality of life.