Institute of Biotechnology, Biological Sciences Center, University of Caxias do Sul, Brazil.
Tohoku J Exp Med. 2012 Apr;226(4):243-9. doi: 10.1620/tjem.226.243.
Tooth agenesis is the failure of tooth bud development, causing definitive absence of the tooth. It is the most common dental anomaly, affecting up to one-quarter of the general population. The main cause is related to abnormal function of specific genes which play key roles during odontogenesis, particularly MSX1 and PAX9. MSX1 is a transcription factor highly expressed in the mesenchyme of developing tooth germs, whereas PAX9 is a transcription factor that shows a direct relationship with craniofacial development, particularly the formation of the palate and teeth. Despite the high frequency of tooth agenesis, there are as yet only a restricted number of mutations in MSX1 and PAX9 that have been associated with non-syndromic tooth agenesis. Thus, a deeper analysis of the gene networks underlying this anomaly is imperative. By means of a literature review based on Medline, PubMed, Lilacs, NCBI, and STRING, performed between 1991 and 2010 and focused on etiologically associated mutations, this work aimed to assess the latest advances in the genetic etiology of tooth agenesis and to offer an insight into how they can assist dental practice in the near future. A better knowledge of the genetic networks underlying tooth agenesis will lead to better treatment options and, perhaps, a tool for early diagnosis possibly related to DNA examination based on polymorphic variants. Such a test based on DNA analysis may be available to and accessible by clinicians, resulting in a more accurate diagnosis and allowing for a better approach to this anomaly.
牙齿缺失是牙胚发育失败导致的，导致恒牙缺失。这是最常见的牙齿异常，影响了高达四分之一的普通人群。主要原因与特定基因的异常功能有关，这些基因在牙发生过程中起着关键作用，特别是 MSX1 和 PAX9。MSX1 是一种转录因子，在发育中的牙胚间质中高度表达，而 PAX9 是一种转录因子，与颅面发育直接相关，特别是腭和牙齿的形成。尽管牙齿缺失的频率很高，但到目前为止，与非综合征性牙齿缺失相关的 MSX1 和 PAX9 突变数量有限。因此，对该异常背后的基因网络进行更深入的分析是至关重要的。通过对 1991 年至 2010 年间在 Medline、PubMed、Lilacs、NCBI 和 STRING 上进行的文献综述，以及对与病因相关的突变进行的综述，本研究旨在评估牙齿缺失遗传病因学的最新进展，并深入了解它们如何在不久的将来为口腔医学实践提供帮助。更好地了解牙齿缺失的遗传网络将为更好的治疗方案提供可能，并可能为早期诊断提供一种与基于多态性变体的 DNA 检查相关的工具。这种基于 DNA 分析的测试可能对临床医生可用且可及，从而实现更准确的诊断，并为这种异常提供更好的处理方法。
