Borges Guilherme Henrique, Lins-Candeiro Caio Luiz, Henriques Isabela Vinhal, de Brito Junior Rui Barbosa, Pithon Matheus Melo, Paranhos Luiz Renato
Postgraduate Program in Dentistry, Faculty of Dentistry, Universidade Federal de Uberlândia, Uberlândia, Brazil.
Faculty of Dentistry, Universidade Federal de Uberlândia, Uberlândia, Brazil.
Morphologie. 2025 Mar;109(364):100941. doi: 10.1016/j.morpho.2024.100941. Epub 2024 Dec 9.
Tooth agenesis is the congenital absence of one or more teeth in the normal series due to failures during dental development in the odontogenesis process. Although tooth development mechanisms are more precise in the literature, the etiology of non-syndromic tooth agenesis remains partially unknown. Mutations in genes that regulate the transcription factors involved in tooth development are associated with this condition. Despite advances in genetic research, questions remain about whose understanding might enable more precise and customized treatments. This study aimed to explain the molecular mechanisms associated with non-syndromic tooth agenesis and treatment progression regarding the condition in genetics. The search was non-systematic and performed in MedLine (via PubMed). The inclusion criteria were observational and experimental studies published in English, Portuguese, and Spanish, with open access and without time restrictions. The data analysis was narrative/descriptive. Fifty-three articles were selected. The primary genes associated with non-syndromic tooth agenesis identified in the study include PAX9 and MSX1 - essential for molar and premolar formation; WNT10A and WNT10B - involved in cell signaling during odontogenesis; AXIN2 - related to the regulation of cell control and colorectal cancer risk; EDA and EDAR - crucial for ectodermal structures; and BMP4 - regulates cell differentiation and morphogenesis. These lesions directly affect tooth formation and quantity. Understanding these genetic foundations and the molecular mechanisms of tooth agenesis is essential to improve diagnosis, develop customized therapies, and enhance patients' quality of life. Continuous research is critical to establish genetic-based therapeutic innovations.
牙齿发育不全是指在牙胚发生过程中，由于牙齿发育期间出现异常，导致正常牙列中一颗或多颗牙齿先天性缺失。尽管文献中对牙齿发育机制的描述更为精确，但非综合征性牙齿发育不全的病因仍部分不明。调控牙齿发育相关转录因子的基因突变与这种情况有关。尽管基因研究取得了进展，但对于何种认识能够实现更精确和个性化的治疗，仍存在疑问。本研究旨在解释与非综合征性牙齿发育不全相关的分子机制以及该病症在遗传学方面的治疗进展。检索是非系统性的，在MedLine（通过PubMed）中进行。纳入标准为以英文、葡萄牙文和西班牙文发表的观察性和实验性研究，开放获取且无时间限制。数据分析采用叙述性/描述性。共筛选出53篇文章。该研究中确定的与非综合征性牙齿发育不全相关的主要基因包括PAX9和MSX1（对磨牙和前磨牙形成至关重要）；WNT10A和WNT10B（参与牙胚发生过程中的细胞信号传导）；AXIN2（与细胞控制调节和结直肠癌风险相关）；EDA和EDAR（对外胚层结构至关重要）；以及BMP4（调节细胞分化和形态发生）。这些病变直接影响牙齿的形成和数量。了解这些遗传基础和牙齿发育不全的分子机制对于改善诊断、开发个性化治疗方法以及提高患者生活质量至关重要。持续研究对于建立基于基因的治疗创新至关重要。
