By: Branden Largent

University of Minnesota researchers are one step closer to potential treatments for muscular dystrophy.

According to an online study published Wednesday in the journal Nature Communications, researchers from the University’s Lillehei Heart Institute have found a potential treatment for Duchenne muscular dystrophy in mice.

The researchers combined cell therapy and genetic correction methods to turn the mice’s own cells into stem cells that can regenerate muscle.

“It’s game-changing research, in my opinion, in the field of muscular dystrophy,” said Jakub Tolar, director of the University’s Stem Cell Institute.

Muscular dystrophy is a genetic disorder that weakens and deteriorates muscles over time. There’s currently no effective treatment for it in humans, said Rita Perlingeiro, the study’s principal investigator and a University professor.

Perlingeiro said the research provides proof-of-principle for the possibility of treating the disorder and could translate to testing in human cells from dystrophic patients.

Duchenne muscular dystrophy occurs mostly in children, who are often confined to wheelchairs as a result. Many children die from the disorder by the time they’re teenagers because the deterioration of the diaphragm prevents them from breathing, Perlingeiro said.

“The impact [of muscular dystrophy] on the individuals and their families is profound, lifelong and most commonly tragic,” Tolar said. “So anything that can be done to reverse this progressive disability is of enormous clinical impact.”

Perlingeiro has worked on muscular dystrophy research for a decade. She oversaw the first successful use of human stem cells in treating the disease last year.

Tolar said Perlingeiro’s method has the potential to reach human clinical trials, which would make it the first MD treatment to do so.

The research is unique in that the diseased mice become their own stem cell donors, which eliminates the ethical implications of using embryonic stem cells, Perlingeiro said.

Using newly developed technology, Perlingeiro’s team reprogrammed skin cells from dystrophic mice’s tails into stem cells capable of morphing into any mature cell type.

They genetically modified the stem cells to grow into muscle cells. The new cells were transplanted back into the muscles of the donor dystrophic mice. After being injected with the new muscle stem cells, the mice showed increased long-term muscular development, Perlingeiro said.

The mice weren’t cured of muscular dystrophy, but Perlingeiro said muscle function improved greatly. She said she was confident the methods could have the same results in humans.

Perlingeiro’s team is applying the research to cells from a human patient with Duchenne muscular dystrophy, said Antonio Filareto, a University postdoctoral associate and the lead author of the study. The modified human skin cells will first be tested on mice and could eventually be used in human clinical trials.

“We know it’s not the end,” Filareto said. “It’s just a starting point to apply all this technology we have been optimizing to patient cells.”

Potential clinical trials could still be years down the road, but Perlingeiro said the team is optimistic that the research could be successful in future treatments.

“It all depends on the research process, and you can’t anticipate that,” Perlingeiro said, “but so far, so good.”