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Fibrodysplasia ossificans progressiva

Authors
Journal
Best Practice & Research Clinical Rheumatology
1521-6942
Publisher
Elsevier
Publication Date
Volume
22
Issue
1
Identifiers
DOI: 10.1016/j.berh.2007.11.007
Keywords
  • Fibrodysplasia Ossificans Progressiva (Fop)
  • Heterotopic Ossification
  • Bone Morphogenetic Protein
  • Bmp
  • Acvr1
  • Alk2
Disciplines
  • Biology
  • Medicine

Abstract

Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of congenital skeletal malformations and progressive heterotopic ossification (HO), is the most catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft tissue injury, and immobility is cumulative. Recently, a recurrent mutation in activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor, was reported in all sporadic and familial cases of classic FOP, making this one of the most highly specific disease-causing mutations in the human genome. The discovery of the FOP gene establishes a critical milestone in understanding FOP, reveals a highly conserved target for drug development in the transforming growth factor (TGF)-β/BMP signalling pathway, and compels therapeutic approaches for the development of small molecule signal transduction inhibitors for ACVR1/ALK2. Present management involves early diagnosis, assiduous avoidance of iatrogenic harm, and symptomatic amelioration of painful flare-ups. Effective therapies for FOP, and possibly for other common conditions of HO, may potentially be based on future interventions that block ACVR1/ALK2 signalling.

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