Activin-dependent signaling in fibro/adipogenic progenitors causes fibrodysplasia ossificans progressiva

Nat Commun. 2018 Feb 2;9(1):471. doi: 10.1038/s41467-018-02872-2.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disorder characterized by progressive and profoundly disabling heterotopic ossification (HO). Here we show that fibro/adipogenic progenitors (FAPs) are a major cell-of-origin of HO in an accurate genetic mouse model of FOP (Acvr1 tnR206H ). Targeted expression of the disease-causing type I bone morphogenetic protein (BMP) receptor, ACVR1(R206H), to FAPs recapitulates the full spectrum of HO observed in FOP patients. ACVR1(R206H)-expressing FAPs, but not wild-type FAPs, activate osteogenic signaling in response to activin ligands. Conditional loss of the wild-type Acvr1 allele dramatically exacerbates FAP-directed HO, suggesting that mutant and wild-type ACVR1 receptor complexes compete for activin ligands or type II BMP receptor binding partners. Finally, systemic inhibition of activin A completely blocks HO and restores wild-type-like behavior to transplanted Acvr1 R206H/+ FAPs. Understanding the cells that drive HO may facilitate the development of cell-specific therapeutic approaches to inhibit catastrophic bone formation in FOP.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activin Receptors, Type I / genetics*
  • Activin Receptors, Type I / metabolism
  • Activins / metabolism*
  • Animals
  • Disease Models, Animal*
  • Female
  • Gene Knock-In Techniques
  • Male
  • Mice, Transgenic
  • Muscle, Skeletal / physiology
  • Myositis Ossificans / etiology*
  • Myositis Ossificans / metabolism
  • Osteogenesis
  • Stem Cells / metabolism*
  • Wound Healing

Substances

  • Activins
  • Activin Receptors, Type I
  • Acvr1 protein, mouse