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About Dystrophin and Utrophin

Dystrophin

  • A structural protein in muscle that is encoded by the Duchenne gene, the largest in the human genome.
  • Acts as a cushion, as well as a kind of glue.
  • It binds to the muscle membrane and helps maintain the structure of muscle cells.
  • Without dystrophin, muscles are unable to operate properly, suffer progressive damage, and eventually die.

Utrophin

  • The utrophin protein is about 7% shorter than dystrophin, but has a similar structure and function.
  • Utrophin is present in the fetus and is replaced by dystrophin at birth.
  • It remains present in the cell in small quantities.

Experiments with mice have shown that utrophin can substitute for dystrophin and take over its functions. Increasing utrophin levels by stimulating gene activity is being studied as a possible therapy for Duchenne. Find out more by viewing our section on Utrophin Upregulators.

Read more about What Causes Duchenne, or learn about Research.


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