Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy - Researchers have long known that the devastating disease called Duchenne muscular dystrophy (DMD) is caused by a single mutation in a gene called dystrophin. The protein encoded by that gene is critical for the integrity of muscle; without it, they are easily damaged. But new findings in mice reported online in the journal Cell on December 9th by researchers at Stanford suggest that disease symptoms, including progressive muscle weakening leading to respiratory failure, only set in when skeletal muscle stem cells can no longer keep up with the needed repairs.

“These findings are critical for thinking about how to treat the disease and when,” added Jason Pomerantz, the study’s co-corresponding author who is now at the University of California, San Francisco. “It predicts any treatment designed solely to build muscle or enhance muscle function without replenishing the stem cell compartment is likely to fail and may even accelerate the decline. It’s like pushing the gas pedal to the floor when there is no reserve.”