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 stopping bone formation. The first thing that comes to mind is osteoporosis, which is the flip side of the coin when it comes to bone formation. When one learns about one side - extra bone growth - it helps you understand what goes the other way,' said Dr. Victor A. McKusick, a genetics pioneer and professor of medical genetics at Johns Hopkins University School of Medicine in Baltimore.
'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,' said Stephanie Snow, a FOP sufferer, who aspires becoming a veterinarian.
'The gene discovery is an extraordinary gift to the FOP community and a monumental milestone on our road to a cure,' said Jeannie Peeper, a 47-year-old FOP patient, member of International FOP Association, who is set to defy all odds despite her total immobility.
This novel breakthrough has indeed offered endless hope to numerous victims, afflicted with FOP.