Inhibited Wnt signaling causes age-dependent abnormalities in the bone matrix mineralization in the Apert syndrome FGFR2(S252W/+) mice

PLoS One. 2015 Feb 18;10(2):e112716. doi: 10.1371/journal.pone.0112716. eCollection 2015.

Abstract

Apert syndrome (AS) is a type of autosomal dominant disease characterized by premature fusion of the cranial sutures, severe syndactyly, and other abnormalities in internal organs. Approximately 70% of AS cases are caused by a single mutation, S252W, in fibroblast growth factor receptor 2 (FGFR2). Two groups have generated FGFR2 knock-in mice Fgfr2S252W/+ that exhibit features of AS. During the present study of AS using the Fgfr2S252W/+ mouse model, an age-related phenotype of bone homeostasis was discovered. The long bone mass was lower in 2 month old mutant mice than in age-matched controls but higher in 5 month old mutant mice. This unusual phenotype suggested that bone marrow-derived mesenchymal stem cells (BMSCs), which are vital to maintain bone homeostasis, might be involved. BMSCs were isolated from Fgfr2S252W/+ mice and found that S252W mutation could impair osteogenic differentiation BMSCs but enhance mineralization of more mature osteoblasts. A microarray analysis revealed that Wnt pathway inhibitors SRFP1/2/4 were up-regulated in mutant BMSCs. This work provides evidence to show that the Wnt/β-catenin pathway is inhibited in both mutant BMSCs and osteoblasts, and differentiation defects of these cells can be ameliorated by Wnt3a treatment. The present study suggested that the bone abnormalities caused by deregulation of Wnt pathway may underlie the symptoms of AS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrocephalosyndactylia / metabolism*
  • Acrocephalosyndactylia / pathology
  • Animals
  • Bone Matrix / metabolism*
  • Bone Matrix / pathology
  • Calcification, Physiologic / genetics
  • Calcification, Physiologic / physiology
  • Mice
  • Mice, Mutant Strains
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / metabolism*
  • Wnt Signaling Pathway / physiology*

Substances

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

Grants and funding

The work was supported by the Special Funds for Major State Basic Research Program of China (973 program) (No. 2011CB964701), Natural Science Foundation Project of CQ CSTC (No. cstc2012jjA0427). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.