- The Washington Times - Sunday, April 23, 2006

NEW YORK (AP) — Scientists have discovered a mutant gene that triggers the body to form a second, renegade skeleton, solving the mystery of a rare disease called FOP that imprisons children in bone for life.

The finding, reported yesterday, may lead to the development of a drug, to treat not only the rare bone disorder, but also more common bone buildup related to head and spine trauma, and even sports injuries, the researchers said.

“We’ve reached the summit,” said Dr. Frederick Kaplan, an orthopedist whose team at the University of Pennsylvania School of Medicine pinpointed the cause of FOP, or fibrodysplasia ossificans progressiva. The disease is thought to afflict 2,500 people worldwide.

The research was reported in the online edition of the journal Nature Genetics by Mr. Kaplan, geneticist Eileen M. Shore and their University of Pennsylvania colleagues, with contributions from researchers in Australia, Brazil, France, Germany, Great Britain, the Netherlands and South Korea.

After 15 years of work involving the study of the genetic makeup of multigenerational families worldwide, scientists at the University of Pennsylvania’s Center for Research in FOP and Related Disorders found that FOP is caused by a single mutation in a gene called ACVR1. This glitch means that tendons, ligaments and skeletal muscles painfully begin to transform into bone, sometimes locking joints overnight.

The genetic twist that leads to FOP, Dr. Kaplan said, “is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton.”

Researchers think it should be possible to develop a drug that would block or bypass the genetic trigger of the extra bone growth. Eventually, it might block the unnecessary bone that occasionally forms after hip-replacement surgery.

“In the next five years, this might open up the possibility of developing drugs that would be effective in stopping bone formation,” said Dr. Victor A. McKusick, a genetics pioneer and professor of medical genetics at Johns Hopkins University School of Medicine in Baltimore.

He said the FOP genetic breakthrough is likely to shed light on related diseases.

“The first thing that comes to mind is osteoporosis, which is the flip side of the coin when it comes to bone formation,” he said. “When one learns about one side — extra bone growth — it helps you understand what goes the other way” — bone breakdown.

Stephanie Snow, a 15-year-old with FOP, hopes the finding will lead to a drug that can stop the stiffening damage to her body, which includes a fused and immobile neck, arms that she cannot raise and problems with hip mobility. The Santa Maria, Calif., teenager dreams of becoming a veterinarian.

“If they develop a pill we can take every day, I can move and do more things, and it might be easier for me to become a vet, like I’ve always wanted to,” she said.

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