What is the gene product associated with Duchenne muscular dystrophy?

• A. Dystrophin
• B. Clotting factor IX
• C. Clotting factor VIII
• D. Androgen receptor

Answer: (A)

Duchenne muscular dystrophy (DMD) is a genetic disorder caused by mutations in the DMD gene, which is responsible for the production of dystrophin, a protein essential for maintaining the structural integrity of muscle cells. Dystrophin links the cytoskeleton of muscle cells to the extracellular matrix, providing stability during muscle contraction and preventing damage to the muscle fibers.

In the absence or dysfunction of dystrophin due to mutations in the DMD gene, muscle cells become more susceptible to injury and degeneration. This leads to the progressive muscle weakness and degeneration characteristic of DMD.

The other options are associated with different genetic disorders or functions. Clotting factor IX and clotting factor VIII are involved in blood coagulation and are related to hemophilia, while the androgen receptor gene is involved in the development of male sexual characteristics and is associated with conditions like androgen insensitivity syndrome. Therefore, dystrophin is specifically linked to the pathology of Duchenne muscular dystrophy, making it the correct choice.