The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling

Cytokine Growth Factor Rev. 2009 Oct-Dec;20(5-6):399-407. doi: 10.1016/j.cytogfr.2009.10.006. Epub 2009 Nov 6.

Abstract

The ability of mature organisms to stabilize phenotypes has enormous selective advantage across all phyla, but the mechanisms have been largely unexplored. Individuals with fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder of progressive heterotopic ossification, undergo a pathological metamorphosis in which one normal tissue is transformed into another through a highly regulated process of tissue destruction and phenotype reassignment. This disabling metamorphosis is mediated by the FOP metamorphogene, which encodes a mutant bone morphogenetic protein (BMP) type I receptor that exhibits mild constitutive activity during development and severe episodic dysregulation postnatally. The discovery of the FOP metamorphogene reveals a highly conserved target for drug development and identifies a fundamental defect in the BMP signaling pathway that when triggered by injury and inflammation transforms one tissue into another.

Publication types

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

MeSH terms

  • Activin Receptors, Type I / genetics
  • Activin Receptors, Type I / physiology
  • Animals
  • Bone Morphogenetic Protein Receptors, Type I / genetics
  • Bone Morphogenetic Protein Receptors, Type I / physiology*
  • Bone and Bones / abnormalities
  • Bone and Bones / embryology
  • Bone and Bones / injuries
  • Humans
  • Inflammation / complications
  • Inflammation / genetics
  • Models, Biological
  • Morphogenesis / genetics
  • Morphogenesis / physiology
  • Myositis Ossificans / complications
  • Myositis Ossificans / genetics*
  • Myositis Ossificans / therapy
  • Ossification, Heterotopic / etiology
  • Ossification, Heterotopic / genetics
  • Signal Transduction / genetics*

Substances

  • ACVR1 protein, human
  • Activin Receptors, Type I
  • Bone Morphogenetic Protein Receptors, Type I