非综合征型先天缺牙致病基因和分子机制的研究进展  

Research progress on pathogenic genes and molecular mechanisms of nonsyndromic tooth agenesis

作　　者：谢伟鸿 余东升[1] 赵玮[1] XIE Weihong;YU Dongsheng;ZHAO Wei(Guanghua School and Hospital of Stomatology,Guangdong Provincial Key Laboratory of Stomatology,Sun Yat-sen University,Guangzhou 510055,China)

机构地区：[1]中山大学光华口腔医学院·附属口腔医院广东省口腔医学重点实验室

出　　处：《口腔疾病防治》2020年第4期257-261,共5页Journal of Prevention and Treatment for Stomatological Diseases

基　　金：国家自然科学基金(81472526、81873711);广东省科技计划项目(2016A020215094、2016A020216007)

摘　　要：先天缺牙是牙齿发育过程中常见的牙数目发育异常,对患者的颌面部发育及美观和咀嚼功能产生严重的影响。根据有无伴发全身症状,先天缺牙可分为综合征型先天缺牙与非综合征型先天缺牙。近几年发现新的相关基因和新的突变位点及分子机制已成为目前非综合征型先天缺牙基因研究的主要方向。本文通过对近年来文献的回顾,对与非综合征型先天缺牙主要相关的Wnt/β-catenin信号通路、TGF-β/BMP信号通路、PAX9基因和MSX1基因、EDA/EDAR/NF-κb信号通路的分子机制以及相互调节的紧密联系进行综述,为未来先天缺牙的防治提供了新的理论基础。非综合征型先天缺牙致病基因的分子机制的研究目前甚少,对于其机制的精准探索将成为先天缺牙未来主要的研究方向之一。Tooth agenesis is a common tooth number deficiency that occurs in the tooth-forming process or earlier period of tooth germ development and has a serious impact on the maxillofacial development, aesthetics and masticatory function of patients. According to the presence or absence of systemic symptoms, tooth agenesis can be divided into syndromic tooth agenesis and nonsyndromic tooth agenesis. In recent years, the discovery of new related genes, new mutation sites and related molecular mechanisms has become a major direction of gene research. This article will review the current research progress of the signaling pathways related to nonsyndromic tooth agenesis, such as the WNT/betacatenin pathway, TGF-β/BMP pathway, PAX9, MSX1, and the EDA/EDAR/NF-κb pathway, and their molecular mechanisms. The interaction between Pax9 activating the Wnt/β-catenin and TGF-β/BMP pathways, MSX1 activating the TGF-β/BMP pathway, and Wnt activating the EDA/EDAR/NF-κb pathway was also found, which provides a new theoretical basis for the prevention and treatment of tooth agenesis. The molecular mechanism of nonsyndromic tooth agenesis is rarely studied;thus, the exploration of its mechanism will become one of the main research directions in the future.

关 键 词：非综合征型先天缺牙 牙齿发育 基因调控 信号通路 致病基因 分子机制 Wnt/β-连环蛋白 转化生长因子-β/骨形成蛋白 配对盒基因9 肌节同源异型盒基因1 

分 类 号：R78[医药卫生—口腔医学] R783.6[医药卫生—临床医学]