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Rare Bone Disease Traced To Faulty FOP Gene

The mystery surrounding a rare bone disease called fibrodysplasia ossificans progressiva (FOP) has been resolved following the identification of a mutant gene// linked to the disease. It is this gene that triggers the formation of a second skeleton, making movement impossible. Nearly 2500 individuals are believed to be afflicted with the disease, worldwide.

As the disease progresses, the muscles, ligaments, tendons, and plates of bones are imprisoned in the second skeleton, for the entire life. The disease that occurs in early childhood has no proper available treatment.

The identification of this mutant FOP gene could eventually pave for development of novel treatment techniques to treat the disease. Additionally, it might provide important clues about effective treatment of head injuries, spinal trauma and sports injuries.

The researchers at Penn's Center for Research in FOP and Related Disorders were involved in 15 years of hard work to analyze the genetic constitution of the families associated with the disease. Mutation in a single gene called ACVR1 was pinpointed to be the cause of FOP. 'We've reached the summit. The genetic twist that leads to FOP, is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton,' said Dr. Frederick Kaplan, in a telephonic interview, commenting about the discovery.

The results of this study, published in the online edition of the Nature journal, could lead to the development of drugs that would inhibit or bypass the genetic switch that triggers extra bone growth. Perhaps, some day, it might even be possible to prevent formation of the unnecessary bone that occasionally forms after hip-replacement surgery. It could also lead to an improved understanding of other similar bone related diseases.

'In the next five years, this might open up the possibility of developing drugs that would be effective in stoppin
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