摘要
石骨症也称阿耳伯斯·尚堡氏病(Albers Schonberg disease)、大理石骨病(Marble bone disease)等,是一种以骨吸收障碍导致的广泛骨密度增加为标志的罕见疾病,主要与破骨细胞(OCL)功能障碍有关。最近的研究证实了石骨症具有高度的遗传异质性,涉及多种基因突变(TCIRG1、CLCN7、SNX10、OSTM1、PLEKHM1、CAII、RANKL、RANK)。然而,仍有超过25%的患者发病于未知类型的基因突变。分选连接蛋白10型(SNX10)是一种新发现的石骨症相关因子。为含PX结构域的分选连接蛋白亚型,参与破骨重吸收过程中质子泵(V-ATPase)的囊泡运输,从而导致重吸收过程的H+分泌障碍,即严重的OCL丰富型常染色体隐性石骨症(ARO)。本文主要从SNX10的功能、SNX10已知的突变类型、临床病例及治疗等方面,针对SNX10与石骨症关系进行系统的阐述。
Osteopetrosis,also called Albers Schonberg disease,Marble bone disease,is a group of rare inherited skeletal disorders characterized by a marked increase in bone density.The cause is mainly due to defective bone resorption by the osteoclasts.Recent studies has proved the high genetic heterogeneity of osteopetrosis,involving many genes(TCIRG1,CLCN7,SNX10,OSTM1,PLEKHM1,CAII,RANKL,RANK and so on).However,approximately 25%of all osteopetrosis cases are caused by mutations of unidentified genes.Sorting nexin 10(SNX10)is a subtype of sorting nexin protein,which contains PX domain and assists the vesicle transport of V-ATPase during the osteoclast resorption.Therefore,osteopetrosis caused by mutations of SNX10,a kind of autosomal recessive osteopetrosis(ARO),leads to serious dysfunction of osteoclasts.This review mainly focus on current understanding of SNX10 on osteopetrosis.
作者
周卫军
唐尚坤
沈晔
陈敏杰
Zhou Weijun;Tang Shangkun;Shen Ye;Chen Minjie(Department of Clinical Medicine,Second Clinical Medical College,Wenzhou Medical University,Wenzhou Zhejiang,325000,China)
出处
《生物骨科材料与临床研究》
CAS
2021年第3期72-77,共6页
Orthopaedic Biomechanics Materials and Clinical Study
基金
国家级大学生创新创业课题《掺海藻糖PMMA骨水泥在甲氨蝶呤引发的Masquelet诱导膜损伤中的应用及机制研究》(自然科学类,课题编号:201910343007)。
