摘要
目的分析SH3BP2基因点突变后,与其相关的信号转导通路发生的变化,探讨巨颌症发病的分子机制。方法采用免疫荧光技术检测巨颌症患者的活化T细胞核因子(nuclear factor of activated Tcells,NFAT)家族中的NFATc1及SH3BP2蛋白在细胞内的定位及表达含量的变化。结果巨颌症标本中NFATc1总体表达含量变化不明显,但发生了核内转位;SH3BP2在巨颌症组织中表达量增高。结论巨颌症致病基因SH3BP2发生点突变后,SH3BP2蛋白表达量可增多,并可导致NFATc1发生核内转位,这可能是导致巨颌症病变中破骨细胞被激活,形成骨吸收的重要机制。
Objective To investigate the change of signal transduction pathway after the point mutation of SH3 BP2 gene. Methods Immunofiuorescence method was used to detect the changes of NFATcl and SH3BP2 protein in location and expression level in cells of cherubism and non cherubism patients. Results No significant change was found in NFATcl expression, but it showed nucleus translocation. The expression of SH3BP2 protein in cherubism increased. Conclusion After the point mutation of SH3BP2 gene,the expression of SH3BP2 protein increased and lead to the nucleus translocation of NFATcl ,which may be the important mechanism of osteoclastsgctivation and bone resorption.
出处
《北京口腔医学》
CAS
2010年第4期185-188,共4页
Beijing Journal of Stomatology
基金
北京市自然科学基金(7092037)
首都医科大学基础-临床课题(2007JL50)
