Muscle Regeneration Dysfunction Is at the Root of the Rare Bone Growth Disease FOP


Muscle Regeneration Dysfunction is at the root of the rare bone growth disease FOP.

Fibrodysplasia ossificans progressiva (FOP) is a rare disease that causes extensive bone growth outside of the normal skeleton, delaying the body’s normal responses to even minor injuries.

It causes a “second skeleton,” which restricts joint movement and may make breathing difficult.

However, new research in mice conducted by a team at the University of Pennsylvania’s Perelman School of Medicine suggests that extra-skeletal bone formation isn’t the only cause of the disease.

After injuries, it appears that impaired and inefficient muscle tissue regeneration allows unwanted bone to form in areas where new muscle should form.

This discovery, which was published today in NPJ Regenerative Medicine, opens up the possibility of developing new therapies for FOP.

“While we have made great strides toward better understanding this disease, this work shows how basic biology can provide great insights into appropriate regenerative medicine therapies,” said Foteini Mourkioti, PhD, the study’s lead author and co-director of the Penn Institute for Regenerative Medicine’s Musculoskeletal Program.

“We can now show that there is potential for a whole new realm of therapies for patients with this devastating condition from the lab,” she says.

About 15 years ago, Penn researchers – including this study’s co-author, Eileen Shore, PhD, a professor of Orthopaedic Surgery and Genetics and co-director of the Center for Research in FOP and Related Disorders – discovered that a mutation in the ACVR1 gene was responsible for FOP. In that study, the team discovered that the mutation changed cells within muscles and connective tissues, misdirecting cells within the tissue to behave like bone cells, resulting in new and abnormal bone formation.

“However, while research into how the FOP mutation affects cell fate decisions has gotten a lot of attention in recent years,” Shore said, “little attention has been paid to the effects of the genetic mutation on muscle and its impact on the cells that repair muscle injuries.”

“We were convinced that pursuing research in this area could provide clues not only for preventing extra bone formation but also for improving muscle function and regeneration, bringing new clarity to FOP as a whole,” says the team.

Muscle from mice with the same mutation in the ACVR1 gene as people with FOP was studied.

They concentrated their efforts on two distinct types of people…

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