Fibrodyplasia Ossificans Progressiva certainly rare genetic disease in which the body's muscle tissue, tendons, ligaments and other connective tissues convert into cuboid. Throughout the process of aging, FOP eventually causes permanent immobility with the body, individuals are unable to move or bend over effected areas of the body. This crippling disease even though rare is life threatening and wishes to be cured. Although scientists are now able to identify the cause, even more research is necessary to fully understand the cause and generate an effective treatment.
This kind of medical abnormality is so exceptional that only just lately a cause has become identified. After fifteen many years of research College or university of Pennsylvania's orthopedic physician Frederick Kaplan, M. Deb., his study team have got found the faulty gene responsible for the mutation ("Fibrodysplasia Ossificans Progressiva") the changement in the ACVR1 gene triggers fibrodysplasia ossificans progressiva. The ACVR1 gene is found in various tissues including skeletal muscles and cartilage. It results in the growth of bones and muscles. It's also involved in the bone development from birth to adult life, specifically the change from the fibrous connective tissue cartilage to bone tissue. It is at present understood the mutation inside the gene may cause changes in specific bone pain. The receptors are what turn bone tissue formation on and off. The veranderung in the gene causes the receptor to get turned on frequently; this causes the overgrowth of bone over the cartilage. It's the problem that causes joint parts to merge, and bone fragments sheaths to form over other bone ("ACVR1).
The condition is extremely rare, worldwide about 1 in 1 . 6 million persons effected. Simply no proven relationship between era, race, gender, ethnic history or geographic location.
One of the first written about...
... ibrodysplasia Ossificans Progressiva. " Scientific Reviews in Bone and Mineral Metabolic process. Vol. a few. Humana, 2005. 252-54. PDF file.
Kaplan, Frederick. "The Phenotype of Fibrodysplasia Ossificans Progressiva" Clinical Reviews in Bone and Mineral Metabolic process. Vol. a few. Humana, june 2006. 182-86. PDF file.
"FOP Bones. " FOP Skeleton. 2009. Web. 15 Apr. 2014..
Kaplan, Frederick. "An Famous Perspective" Medical Reviews in Bone and Mineral Metabolic process. Vol. a few. Humana, 2005. 179-80. PDF FORMAT file.
Kaplan, Frederick S., et al. "Early diagnosis of fibrodysplasia ossificans progressiva. " Pediatrics 121. five (2008): e1295-e1300.
University of California - San Francisco. "Study Highlights The Ramifications Of Medical Misdiagnosis. " ScienceDaily. ScienceDaily, 8 November june 2006..