中国口腔种植学杂志 ›› 2024, Vol. 29 ›› Issue (3): 218-223.DOI: 10.12337/zgkqzzxzz.2024.06.005

• “先天缺牙的相关治疗及进展”重点栏目 • 上一篇    下一篇

先天缺牙致病基因的相关研究进展

张晗1,2, 孙瑶1   

  1. 1同济大学口腔医学院 同济大学附属口腔医院种植科 上海牙组织修复与再生工程技术研究中心 200072;
    2北京大学口腔医学院·口腔医院正畸科 100081
  • 收稿日期:2024-04-18 出版日期:2024-06-30 发布日期:2024-06-28
  • 通讯作者: 孙瑶,Email:yaosun@tongji.edu.cn,电话:021-66313680
  • 作者简介:张晗 硕士研究生,研究方向:牙发育及牙数目异常研究; 孙瑶 博士、教授、博士研究生导师,研究方向:骨和牙的发育及矿化、牙和骨发育及矿化创新机理研究、功能分子在代谢性骨病干预治疗中的作用研究
  • 基金资助:
    国家自然科学基金优秀青年科学基金(81822012); 上海市科委2020年度“科技创新行动计划”实验动物研究(201409006400); 上海市2020年度“科技创新行动计划”学术带头人(20XD1424000)

Progress in research on genes associated with tooth agenesis

Zhang Han1,2, Sun Yao1   

  1. 1Department of Implantology, Stomatological Hospital and Dental School of Tongji University, Shanghai Engineering Research Center of Tooth Restoration and Regeneration, Shanghai 200072, China;
    2Department of Orthodontics, Peking University Hospital of Stomatology, Beijing 100081, China
  • Received:2024-04-18 Online:2024-06-30 Published:2024-06-28
  • Contact: Sun Yao, Email: yaosun@tongji.edu.cn, Tel: 0086-21-66313680
  • Supported by:
    National Natural Science Foundation of China (81822012); Shanghai Experimental Animal Research Project of Science and Technology Innovation Action Plan (201409006400); Shanghai Academic Leader of Science and Technology Innovation Action Plan (20XD1424000)

摘要: 先天性牙缺失(先天缺牙)是一种在口腔发育中常见的异常,目前对其致病机理的了解仍然不完全。最新研究已经鉴定出多个与这种情况有关的基因,这些基因编码的蛋白质参与到调节和指导牙胚正常发育的关键信号途径中。本综述重点讨论了与先天缺牙相关的基因及其参与的牙发育信号传导途径。随着利用模式动物对这一发育异常致病过程研究的进一步深入,针对这些基因的功能调节或修复信号传递缺陷或许是治疗先天缺牙的有效策略。此外,本文还综述了在人类患者中常见先天缺牙致病基因的临床特点,并探讨了先天缺牙致病基因和肿瘤发生之间可能存在的联系。

关键词: 先天缺牙, 致病机制, 成牙信号

Abstract: Tooth agenesis, a prevalent oral disease, remains partially elusive in terms of its underlying pathogenic mechanism. Recent breakthroughs have elucidated a series of pathogenic genes associated with this condition, whose encoded proteins play key roles in regulating and guiding normal tooth germ development through essential signaling pathways. This review focuses on genes related to congenital tooth agenesis and their involvement in the signaling pathways of tooth developrnet. As research progreses, especialy through the use of model animal, insights into the pathogenic processes of this developmental anomaly may lead to effective strategies for treating congenital tooth agenesis by modulating the function of these genes or repairing defects in signal transmission.Moreover, this article also discusses the clinical characteristics of congenital tooth agenesis-causing genes observed in human patients and explores the potential link between these genes and the occurrence of tumors.

Key words: Tooth agenesis, Pathogenesis, Odontogenesis signaling