Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant genetic disorder of aberrant joint formation and heterotopic bone formation, and is the result of a mutation in an as-yet-unidentified gene. Dysregulated signaling pathways can be investigated as a method to identify the consequences of the mutated gene responsible for FOP and to identify potential therapeutic targets. Candidate signaling pathways for FOP are those whose dysregulation during embryonic development could account for the malformation of the great toes and whose postnatal dysregulation could explain the progressive, heterotopic endochondral ossification that is such a disabling feature of the disorder. Signaling pathways that fit these criteria are the bone morphogenic protein (BMP)-signaling pathway and its interacting pathways. A large body of data suggests that the BMP4-signaling pathway is dysregulated in FOP.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Orthopedics and Sports Medicine
- BMP receptors
- Fibrodysplasia ossificans progressiva (FOP)
- Heterotopic ossification