ACVR1 Gene Responsible for Fibrodysplasia ossificans progressiva (FOP)
Apr 25, 2006 - 8:34:37 PM

Scientists have identified a gene that turns muscle into bone - one of the rarest disorders that affects about one in two million individuals.

The disease named by scientists as Fibrodysplasia ossificans progressiva (FOP) is a connective tissue disorder in which bone grows in tendons, ligaments, and muscles. It begins early in childhood and has no cure.

Researchers led by Frederick Kaplan at the University of Pennsylvania first established that the FOP is likely to be caused by a mutated gene that affects bone morphogenetic proteins (BMPs), which control the formation and repair of the skeleton.

This insight led them to a gene called ACVR1, which controls one of the three main receptors for BMP that determine how cells respond to its signals, the online edition of The Times reported.

In patients with FOP, a tiny mutation in one of the two copies of the ACVR1 gene changes the meaning of its genetic message, so a faulty protein is made, it said.

The discovery of the single gene offers new hope of a first effective therapy for the disorder, they said.

By providing insights into the genetic signals that govern bone growth, the research should also improve understanding and treatment of a wide range of more common skeletal conditions. These include osteoporosis, spinal injuries and sports injuries.

In the longer term, it could also allow scientists to make bone in the laboratory, for treating fractures that fail to heal and skeletal malformations.

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