巨颌症致病基因SH3BP2及其对病变中破骨细胞的作用

巨颌症是一种少见的常染色体显性遗传病,现已明确其致病基因为SH3BP2。此基因突变导致SH3BP2蛋白功能的改变,从而引起病变中破骨细胞的病理性高活性表达,最终导致巨颌症骨质破坏的病理性改变。下面就SH3BP2基因的功能和SH3BP2基因对巨颌症疾病发生的调控作用以及与破骨细胞的联系作一综述。

Advancement of the gene SH3BP2 in cherubism and its affection to osteoclasts within the lesion

Cherubism is a rare autosomal dominant disorder with incomplete penetrance characterized by extensive pathological bone remodeling according to the high activation of osteoclasts in the lesions within the mandible or maxilla due to heterozygous germline mutations in the gene that encodes the adapter protein SH3BP2.This review focuses on the present research of the function of this gene,its affection to the occurrence of cherubism and the relationship with osteoclast.