先天缺牙致病基因的相关研究进展

Progress in research on genes associated with tooth agenesis

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。

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.