c-Fms signaling mediates neurofibromatosis Type-1 osteoclast gain-in-functions

PLoS One. 2012;7(11):e46900. doi: 10.1371/journal.pone.0046900. Epub 2012 Nov 7.

Abstract

Skeletal abnormalities including osteoporosis and osteopenia occur frequently in both pediatric and adult neurofibromatosis type 1 (NF1) patients. NF1 (Nf1) haploinsufficient osteoclasts and osteoclast progenitors derived from both NF1 patients and Nf1(+/-) mice exhibit increased differentiation, migration, and bone resorptive capacity in vitro, mediated by hyperactivation of p21(Ras) in response to limiting concentrations of macrophage-colony stimulating factor (M-CSF). Here, we show that M-CSF binding to its receptor, c-Fms, results in increased c-Fms activation in Nf1(+/) (-) osteoclast progenitors, mediating multiple gain-in-functions through the downstream effectors Erk1/2 and p90RSK. PLX3397, a potent and selective c-Fms inhibitor, attenuated M-CSF mediated Nf1(+/-) osteoclast migration by 50%, adhesion by 70%, and pit formation by 60%. In vivo, we administered PLX3397 to Nf1(+/-) osteoporotic mice induced by ovariectomy (OVX) and evaluated changes in bone mass and skeletal architecture. We found that PLX3397 prevented bone loss in Nf1(+/-)-OVX mice by reducing osteoclast differentiation and bone resorptive activity in vivo. Collectively, these results implicate the M-CSF/c-Fms signaling axis as a critical pathway underlying the aberrant functioning of Nf1 haploinsufficient osteoclasts and may provide a potential therapeutic target for treating NF1 associated osteoporosis and osteopenia.

Publication types

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

MeSH terms

  • Animals
  • Bone Resorption / drug therapy
  • Bone Resorption / genetics
  • Bone Resorption / metabolism
  • Bone Resorption / pathology
  • Cell Adhesion / drug effects
  • Cell Movement / drug effects
  • Cells, Cultured
  • Enzyme Inhibitors / therapeutic use
  • Extracellular Signal-Regulated MAP Kinases / metabolism
  • Female
  • Gene Deletion
  • Humans
  • Macrophage Colony-Stimulating Factor / metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Neurofibromin 1 / genetics
  • Neurofibromin 1 / metabolism*
  • Osteoclasts / cytology
  • Osteoclasts / drug effects
  • Osteoclasts / metabolism*
  • Osteoclasts / pathology
  • Osteoporosis / drug therapy
  • Osteoporosis / genetics
  • Osteoporosis / metabolism
  • Osteoporosis / pathology
  • Receptor, Macrophage Colony-Stimulating Factor / antagonists & inhibitors
  • Receptor, Macrophage Colony-Stimulating Factor / metabolism*
  • Ribosomal Protein S6 Kinases, 90-kDa / metabolism
  • Signal Transduction*

Substances

  • Enzyme Inhibitors
  • Neurofibromin 1
  • Macrophage Colony-Stimulating Factor
  • Receptor, Macrophage Colony-Stimulating Factor
  • Ribosomal Protein S6 Kinases, 90-kDa
  • Extracellular Signal-Regulated MAP Kinases