Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis

Proc Natl Acad Sci U S A. 2006 Dec 5;103(49):18603-8. doi: 10.1073/pnas.0609157103. Epub 2006 Nov 28.

Abstract

Craniosynostosis, the fusion of one or more of the sutures of the skull vault before the brain completes its growth, is a common (1 in 2,500 births) craniofacial abnormality, approximately 20% of which occurrences are caused by gain-of-function mutations in FGF receptors (FGFRs). We describe a genetic and pharmacological approach for the treatment of a murine model system of Crouzon-like craniosynostosis induced by a dominant mutation in Fgfr2c. Using genetically modified mice, we demonstrate that premature fusion of sutures mediated by Crouzon-like activated Fgfr2c mutant is prevented by attenuation of signaling pathways by selective uncoupling between the docking protein Frs2alpha and activated Fgfr2c, resulting in normal skull development. We also demonstrate that attenuation of Fgfr signaling in a calvaria organ culture with an Fgfr inhibitor prevents premature fusion of sutures without adversely affecting calvaria development. These experiments show that attenuation of FGFR signaling by pharmacological intervention could be applied for the treatment of craniosynostosis or other severe bone disorders caused by mutations in FGFRs that currently have no treatment.

Publication types

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

MeSH terms

  • Animals
  • Craniofacial Dysostosis / genetics
  • Craniofacial Dysostosis / pathology
  • Craniofacial Dysostosis / prevention & control
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • Craniosynostoses / prevention & control*
  • Gene Expression Regulation
  • Mice
  • Mutagenesis, Site-Directed*
  • NIH 3T3 Cells
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2 / metabolism*
  • Receptor, Fibroblast Growth Factor, Type 2 / physiology
  • Signal Transduction / genetics*

Substances

  • Fgfr2 protein, mouse
  • Receptor, Fibroblast Growth Factor, Type 2