HealthMap

Duchenne Muscular Dystrophy and Genetic Protein Deficiency

The Primary Genetic Defect

• Duchenne Muscular Dystrophy (DMD) is caused by a mutation in the dystrophin gene, which is located on the X chromosome (Xp21.2).
• This genetic mutation results in a severe deficiency or total absence of the functional structural protein known as dystrophin.

Role of Dystrophin

• Dystrophin is a large, vital cytoskeletal protein located primarily in striated muscle (skeletal and cardiac muscle).
• It acts as a molecular shock absorber and stabilizing anchor, connecting the internal cytoskeleton of a muscle fiber to the surrounding extracellular matrix (sarcolemma).
• Without adequate dystrophin, the muscle cell membrane becomes fragile, leading to membrane destabilization, excessive influx of calcium ions, progressive muscle fiber destruction, and eventual replacement by fibrous connective tissue and fat.