May 3, 2008

The molecular and cellular basis of exostosis formation in hereditary multiple exostoses

International Journal of Experimental Pathology
Meirav Trebicz-GeffenZ Nevo

Abstract

The different clinical entities of osteochondromas, hereditary multiple exostoses (HME) and non-familial solitary exostosis, are known to express localized exostoses in their joint metaphyseal cartilage. In the current study biopsies of osteochondromas patients were screened with respect to a number of cellular and molecular parameters. Specifically, cartilaginous biopsy samples of nine HME patients, 10 solitary exostosis patients and 10 articular cartilages of control subjects were collected and cell cultures were established. Results obtained showed that one of the two HME samples that underwent DNA sequencing analysis (HME-1) had a novel mutation for an early stop codon, which led to an aberrant protein, migrating at a lower molecular weight position. The EXT-1 mRNA and protein levels in chondrocyte cultures derived from all nine HME patients were elevated, compared with solitary exostosis patients or control subjects. Furthermore, cell cultures of HME patients had significantly decreased pericellular heparan sulphate (HS) in comparison with cultures of solitary exostosis patients or control subjects. Immunohistochemical staining of tissue sections and Western blotting of cell cultures derived from HME patients revealed high...Continue Reading

  • References39
  • Citations18
  • References39
  • Citations18

Mentioned in this Paper

Immunoblotting, Reverse
Exostoses
Glycosaminoglycans
Hpse protein, rat
Hereditary Multiple Exostoses
Western Blotting
Structure of Articular Cartilage
N-Acetylglucosaminyltransferases
Cell Culture Techniques
Codon, Terminator

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