Introduction to Fibrodysplasia ossificans progressiva (FOP, Münchmeyer syndrome)
Fibrodysplasia ossificans progressiva (FOP, Münchmeyer syndrome)
- First mentioned in England around 1740
- Orphan disease, approx. one patient per 2 million individuals
- Approx. 600 cases are documented
- Autosomal dominant
- Average life span: 45 years
- Early indicator: deformed big toes
- Progressive incidents of inflammation, followed by differentiation of inflamed tissue into bone
- Patients evolve a “second skeleton”, leading to progressive immobilization and eventually, death
- In 2006, a landmark study showed that a point mutation in the ALK2 receptor is linked to FOP (Shore et al., 2006)
- ACVR1/ALK2 is part of the family of type I BMP receptors (BMPRs)
- BMPRs play a crucial role in bone formation during development
- The study suggests that the identified ALK2 R206H mutation leads to receptor hyperactivation