Rescue of the osteopetrotic defect in op/op mice by osteoblast-specific targeting of soluble colony-stimulating factor-1

Endocrinology. 2002 May;143(5):1942-9. doi: 10.1210/endo.143.5.8775.

Abstract

Soluble colony-stimulating factor-1 (sCSF-1) and membrane bound CSF-1 are synthesized by osteoblasts and stromal cells. However, the precise role of each form in osteoclastogenesis is unclear. In the op/op mouse, absence of osteoblast-derived CSF-1 leads to decreased osteoclasts and osteopetrosis. To determine whether sCSF-1 gene replacement can cure the osteopetrotic defect, we took advantage of the osteoblast specificity of the osteocalcin promoter to selectively express sCSF-1 in the bone of op/op mice. Transgenic mice harboring the human sCSF-1 cDNA under the control of the osteocalcin promoter were generated and cross-bred with heterozygous op/wt mice to establish op/op mutants expressing the transgene (op/opT). The op/op genotype and transgene expression were confirmed by PCR and Southern blot analysis, respectively. High levels of human sCSF-1 protein were selectively expressed in bone. At 2(1/2) wk, op/opT mice showed normal growth and tooth eruption. Femurs removed at 5 and 14 wk were analyzed by peripheral quantitative computed tomography and histomorphometry. The abnormal bone mineral density, cancellous bone volume, and growth plate width observed in op/op mice was completely reversed in op/opT mice by 5 wk, and this effect persisted at 14 wk, with measurements comparable with wt/wt mice at each time point. Correction of the skeletal abnormalities in the 5-wk-old op/opT mice correlated with a marked increase in the total osteoclast number, and their number per millimeter of bone surface compared with that of op/op mutants. Osteoclast number was maintained at 14 wk in op/opT mice and morphologically resembled wt/wt osteoclasts. These results indicate that sCSF-1 is sufficient to drive normal osteoclast development and that the osteocalcin promoter provides an efficient tool for delivery of exogenous genes to the bone. Moreover, targeting sCSF-1 to osteoblasts in the bone microenvironment may be a potentially useful therapeutic modality for treating bone disorders.

Publication types

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

MeSH terms

  • Acid Phosphatase
  • Animals
  • Body Weight / physiology
  • Bone Density
  • Femur / pathology
  • Genetic Therapy*
  • Humans
  • Isoenzymes
  • Macrophage Colony-Stimulating Factor / biosynthesis*
  • Macrophage Colony-Stimulating Factor / genetics
  • Mice
  • Mice, Transgenic
  • Osteoblasts / pathology*
  • Osteoblasts / physiology
  • Osteocalcin / genetics
  • Osteopetrosis / genetics*
  • Osteopetrosis / pathology
  • Osteopetrosis / prevention & control*
  • Promoter Regions, Genetic / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Tartrate-Resistant Acid Phosphatase
  • Tomography, X-Ray Computed
  • Transgenes

Substances

  • Isoenzymes
  • Osteocalcin
  • Macrophage Colony-Stimulating Factor
  • Acid Phosphatase
  • Tartrate-Resistant Acid Phosphatase