Enamel formation and amelogenesis imperfecta
Enamel formation and amelogenesis imperfecta
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DOI：
10.1159/000102683
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发表时间：
2007-01-01
影响因子：
2.7
通讯作者：
Simmer, James P.
中科院分区：
文献类型：
--
作者：
Hu, Jan C. -C.;Chun, Yong-Hee P.;Simmer, James P.
牙釉质是覆盖牙冠的上皮来源的硬组织。它是人体内矿化程度最高、最硬的组织。牙釉质是无细胞的，除了唾液提供的保护和再矿化潜力外，没有生理修复手段。牙釉质由高度组织化的羟基磷灰石晶体组成，其形成于限定的细胞外空间，其内容物由成釉细胞供应和调节。整个过程都在基因的指导下进行。釉质形成的遗传控制知之甚少，但需要多种成分的活动，是牙齿釉质形成独特的重要性。牙釉质发育异常（AI）是一个集体命名的各种遗传条件显示孤立的釉质畸形，但名称也用于表示存在的釉质表型综合征。最近，遗传学研究已经证明了编码釉基质蛋白的基因在孤立性AI病因学中的重要性。在这里，我们回顾了牙釉质形成的基本要素和遗传分析的结果，这些分析已经确定了编码釉质基质蛋白的基因中的致病突变。此外，我们提供了一个新的视角，基质蛋白在催化牙齿生物矿化中的作用。Karger AG，巴塞尔。
Dental enamel is the epithelial-derived hard tissue covering the crowns of teeth. It is the most highly mineralized and hardest tissue in the body. Dental enamel is acellular and has no physiological means of repair outside of the protective and remineralization potential provided by saliva. Enamel is comprised of highly organized hydroxyapatite crystals that form in a defined extracellular space, the contents of which are supplied and regulated by ameloblasts. The entire process is under genetic instruction. The genetic control of amelogenesis is poorly understood, but requires the activities of multiple components that are uniquely important for dental enamel formation. Amelogenesis imperfecta (AI) is a collective designation for the variety of inherited conditions displaying isolated enamel malformations, but the designation is also used to indicate the presence of an enamel phenotype in syndromes. Recently, genetic studies have demonstrated the importance of genes encoding enamel matrix proteins in the etiology of isolated AI. Here we review the essential elements of dental enamel formation and the results of genetic analyses that have identified disease-causing mutations in genes encoding enamel matrix proteins. In addition, we provide a fresh perspective on the roles matrix proteins play in catalyzing the biomineralization of dental Copyright (c) 2007 S. Karger AG, Basel.