Duchenne muscular dystrophy is a genetic disorder that is characterized by the persistent breakdown of muscles and, thus, a constant need for repair. In a new study in Science Advances, researchers from the Perelman School of Medicine discovered that a protein that is key to marshaling muscle stem cells’ unique shapes and response to injuries is also in low supply in those with Duchenne muscular dystrophy. Their research showed that reactivating the protein, Piezo1, allowed muscle stem cells in mice to return to their normal, distinctly-shaped states so that they could repair broken down, dystrophic muscles.
The findings open the door to potential molecular-level treatments that may slow or even halt the progression of muscular dystrophy.
“We showed that muscle stem cells have a variety of extensions that are used to sense their environment to respond to injuries, all of which is controlled by the protein Piezo1,” says the study’s lead author, Foteini Mourkioti, an assistant professor of orthopaedic surgery. “This is in contrast to previous belief, which considered muscle stem cells to be simply round and dormant in undamaged muscles.”
The Piezo1 protein was identified just about a decade ago—and netted a Nobel Prize last year for those who uncovered it—but its function in skeletal muscles has been largely unknown. However, when Penn researchers examined it in muscle stem cells, they found that it governed how the cells formed and coordinated their response to muscle damage.
Not only does this work have specific implications for Duchenne muscular dystrophy, but it could also benefit others with weak muscles resulting from compromised stem cell abilities, including from natural aging.
This story is by Frank Otto. Read more at Penn Medicine News.
