Advertisement
Research Article Free access | 10.1172/JCI116194
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Yamamoto, T. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Kurihara, N. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Yamaoka, K. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Ozono, K. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Okada, M. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Yamamoto, K. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Matsumoto, S. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Michigami, T. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Ono, J. in: JCI | PubMed | Google Scholar
Department of Pediatrics, Osaka University School of Medicine, Japan.
Find articles by Okada, S. in: JCI | PubMed | Google Scholar
Published January 1, 1993 - More info
Craniometaphyseal dysplasia (CMD) is a rare craniotubular bone dysplasia transmitted in autosomal dominant or recessive form. This disease is characterized by cranial bone hyperostosis and deformity of the metaphyses of the long bones. Using osteoclast-like cells formed from patient bone marrow cells, we investigated the pathophysiology of CMD in a 3-yr-old patient. Untreated bone marrow cells from the patient differentiated into osteoclast-like cells in vitro. These cells were shown to have vitronectin beta-receptors using a specific monoclonal antibody, i.e., 23C6 (CD51), which reacts with osteoclasts in human bone biopsy samples. However, the number of these osteoclast-like cells formed from the patient's bone marrow was only 40% of the normal controls. 1,25-dihydroxyvitamin-D3, bovine 1-34 parathyroid hormone, recombinant human interleukin-1 beta, recombinant human interleukin-6, or recombinant human macrophage colony-stimulating factor significantly increased, while salmon calcitonin significantly inhibited, the number of osteoclast-like cells. However, these cells could not resorb sperm whale dentin slices and lacked the osteoclast-reactive vacuolar proton pump as evidenced by a monoclonal antibody (E11). Western blot analysis using a monoclonal antibody to pp60c-src (327) revealed that protooncogene c-src expression by the platelets of the CMD patient was comparable to the normal control. These data suggest that: (a) the hyperostosis and the metaphyseal long bone deformity in the present CMD patient might be explained by osteoclast dysfunction due to impaired expression of the osteoclast-reactive vacuolar proton pump; and (b) a protooncogene c-src was not associated with the pathogenesis of the present CMD patient.
Images.