What Causes Duchenne Muscular Dystrophy? UF Researcher Explains

Duchenne muscular dystrophy, a genetic disease characterized by progressive muscle weakness, is present at birth in people who have the condition. In people with Duchenne, the muscles lack a protein called dystrophin, which is critical for muscle function and repair.

While all people with Duchenne share a lack of or defective dystrophin, the condition can be caused by different kinds of mutations on the same gene. The kind of mutation someone with Duchenne has may determine the course of treatment for the condition since some therapies are designed to work only with certain mutations.

In normal muscle cells, dystrophin transfers the force of muscle contractions from the inside toward the outside of the cell. “Dystrophin is the shock absorber that helps mitigate any damage in the muscle when muscle cells contract,” explains Barry Byrne, MD, Ph.D., the director of the Powell Gene Therapy Center at the University of Florida in Gainesville and the chief medical adviser of the Muscular Dystrophy Association. “Without it, muscles are damaged, there’s inflammation, and those muscles ultimately deteriorate.”

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