蛋白多糖在遗传性多发性骨软骨瘤形成中的重要作用

Important Role of Proteoglycan in the Hereditary Multiple Exostosis

目的 :了解遗传性多发性骨软骨瘤 (HereditaryMultipleExostosis ,EXT )中硫酸肝素 (HeparanSulfate ,HS)链及蛋白多糖 (Perlecan)的表达 ,探讨蛋白多糖在遗传性多发性骨软骨瘤发病机制中的作用。方法 :采用免疫组织化学方法 (SABC)对 4例EXT患者骨软骨瘤软骨组织标本中HS及Perlecan的表达进行检测。与正常髂骨嵴软骨 (2例 )及小关节突软骨 (2例 )对照。结果 :遗传性多发性骨软骨瘤软骨组织不具有典型生长板软骨分层结构 ,细胞呈巢状分布 ;4例骨软骨瘤软骨细胞及基质组织中几乎都没有HS的表达 ;Perlecan定位及表达异常 :主要表达于细胞膜内侧 ,而细胞膜表面及细胞外基质表达明显减少。结论 :蛋白多糖侧链HS链及Perlecan的表达改变说明蛋白多糖在遗传性多发性骨软骨瘤发病中起重要作用。

Objective:To investigate the expression of heparan sulfate (HS),perlecan and detect their function in pathogenesis of hereditary multiple exostosis (EXT).Method:Immunohistochemistry (SABC) were applied to determine the expression level of HS and perlecan in the four specimens of EXT.The control specimens were taken from normal iliac cartilage (2 specimens) and normal facet joint (2 specimens).Result:Exostosis cartilage didn't show layered structure like growth plate's and exostosis chondrocytes were distributed with clusters.Chondrocyte clusters and matrix of the exostosis didn't show any immunostaining almost in the four exostosis samples.Perlecan expressed abnormally also:major in the inside of the chondrocyte membrane,and little in the surface of chondrocyte membrane and extracellular matrix.Conclusion:Abnormal expression of HS and perlecan shows that proteoglycan plays an important role in the pathogenesis of hereditary multiple exostosis.