《生命科学》 2019, 31(6): 596-601

SNX10基因突变对常染色体隐性骨质硬化症及其并发症的影响

周绪昌，曹　红，邹　军，王　淼*

摘　要：常染色体隐性骨质硬化症是一种由破骨细胞功能障碍所导致的恶性遗传疾病。该病通常在患儿出生后不久就出现，具有较高的死亡率。然而，本病临床表现多样，并发症复杂，常出现误诊。因此，迫切需要深入研究该病的发病机制以更好地服务于临床诊断和治疗，以提高患者生存率和生存质量。有关常染色体隐性骨质硬化症的分子研究直至2000 年才开始，目前发现该病的遗传基础为包括SNX10 基因在内的7 种基因突变。该文通过查阅近年来SNX10 基因与常染色体隐性骨质硬化症及其并发症的相关研究文献，综述SNX10 基因突变对破骨细胞骨吸收功能的影响，为SNX10 基因调控常染色体隐性骨质硬化症的病理机制研究提供参考。

摘　要：Effect of SNX10 gene mutation on autosomal recessive osteopetrosis and its complications

Effect of SNX10 gene mutation on autosomal    recessive osteopetrosis and its complications

ZHOU Xu-Chang， CAO Hong， ZOU Jun， WANG Miao*

(School of Kinesiology， Shanghai University of Sport， Shanghai 200438， China)

Abstract: Abstract: Autosomal recessive osteopetrosis (ARO) is a malignant genetic disease caused by osteoclast dysfunction. The disease usually occurs shortly after the birth of the children. The mortality rate of that is relatively high. Due to
    various clinical manifestations and complicated complications， the disease is often misdiagnosed. Therefore， further study of the pathogenesis of the disease is necessary to make better clinical diagnosis and treatment better and improve patients’ quality of life . The molecular study of ARO did not begin until 2000. The genetic basis of the disease is currently found to be seven genetic mutations including SNX10. In this paper， We summarized the effects of SNX10 gene mutation on bone resorption function of osteoclasts by reviewing the recent studies on SNX10 and ARO and its complications， which can provide a reference for the pathological mechanism study of SNX10 regulating ARO.