常染色体显性钙化不全型釉质发育不全相关基因序列相似性83蛋白质家族成员H及其突变的研究进展  

Research progress on the gene family with sequence similarity 83 member H related to autosomal dominant hypocalcified amelogenesis imperfecta and its mutation

作　　者：郭思敏 陈婷[1,2] Guo Simin;Chen Ting(School of Stomatology,Southern Medical University,Guangzhou 510515,China;Dept.of Stomatology,Nanfang Hospital,Southern Medical University,Guangzhou 510515,China)

机构地区：[1]南方医科大学口腔医学院,广州510515 [2]南方医科大学南方医院口腔科,广州510515

出　　处：《国际口腔医学杂志》2022年第5期600-606,共7页International Journal of Stomatology

基　　金：国家自然科学基金(81800950)。

摘　　要：常染色体显性钙化不全型釉质发育不全(ADHCAI)是一种影响釉质结构的遗传性疾病,基本病变为釉质基质形成正常但无明显的矿化。该疾病具有明显的临床和遗传异质性,临床表现为患牙的釉质厚度正常而硬度降低,影响功能和美观。序列相似性83蛋白质家族成员H(FAM83H)在人体的多种组织和细胞中普遍表达,包括成釉细胞、成牙本质细胞和牙槽骨。该基因编码的细胞内蛋白质被认为与角蛋白细胞骨架和桥粒相关,在细胞内分子运输、细胞骨架网络调节和釉质形成中发挥作用。FAM83H基因中的许多突变已被证实可在不同人群中导致ADHCAI。近年来一些研究从囊泡运输、细胞骨架等多角度入手,探究FAM83H突变与AD‐HCAI发生发展之间的关系,本文就ADHCAI相关基因FAM83H及其突变的研究进展进行综述。Autosomal dominant hypocalcified amelogenesis imperfecta(ADHCAI)is a genetic disorder characterized by abnormal enamel formation.The enamel matrix is formed normally but without apparent mineralization.The ADHCAI has evident clinical and genetic heterogeneity.The affected tooth’s enamel thickness is normal however,the surface hardness is reduced,thus affecting the tooth’s function and aesthetics.Family with sequence similarity 83 member H(FAM83H)is a member of family with sequence similarity 83.It is widely expressed in a variety of human tissues and cells including ameloblasts,odontoblasts,and alveolar bone.It encodes an intracellular protein that is associated with ker‐atin cytoskeleton and desmosomes,playing a role in intracellular molecular transport,cytoskeletal network regulation,and enamel formation.Various mutations have been identified in the FAM83H gene that leads to ADHCAI in different populations.In recent years,several studies explored the relationship between mutations in FAM83H and the occurrence and development of ADHCAI from multiple perspectives,such as vesicle trafficking and cytoskeletal organization.In this review,we will focus on the research progress on the gene FAM83H related to ADHCAI and its mutation.

关 键 词：常染色体显性钙化不全型釉质发育不全 序列相似性83蛋白质家族成员H 截断突变 

分 类 号：R780.2[医药卫生—口腔医学]