Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation
Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation
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DOI：
10.1111/j.1600-0722.2006.00291.x
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发表时间：
2006-05-01
影响因子：
1.9
通讯作者：
Yamauchi, Mitsuo
中科院分区：
文献类型：
--
作者：
Wright, J. Tim;Daly, Bill;Yamauchi, Mitsuo
已知激肽释放酶-4在釉质形成的成熟阶段高度表达，并且被认为对于微晶生长的最后阶段至关重要。本研究的目的是评估具有已知KLK-4突变（g.2142G > A）的人类的釉质表型。乳牙从两个人与已知的KLK-4突变进行了评估，使用氨基酸分析和光学和电子显微镜。光学显微镜显示釉质厚度正常，但与正常釉质相比，整个宽度不透明。电子显微镜显示，受KLK-4突变影响的釉质具有正常的棱柱结构，通常具有组织良好且可辨别的微晶组成。在某些区域，存在球状结构，其中微晶不可辨别或似乎具有改变的形态。与正常釉质相比，KLK-4突变体釉质的蛋白质含量增加。在缺乏功能性KLK-4蛋白酶的情况下形成的人牙釉质主要在微晶生长的完整性方面发生改变，而牙釉质厚度和棱柱结构基本上保持正常。总的来说，这些研究表明KLK-4蛋白酶对于釉质的最终微晶生长是必需的，但对于微晶取向、棱柱形成或釉质厚度不是关键的。
Kallikrein-4 is known to be highly expressed during the maturation stage of enamel formation and is thought to be critical for the final phase of crystallite growth. The purpose of this study was to evaluate the enamel phenotype in humans with a known KLK-4 mutation (g.2142G > A). Primary teeth from two individuals with a known KLK-4 mutation were evaluated using amino acid analysis and light and electron microscopy. Light microscopy showed the enamel was of normal thickness but opaque throughout its width compared with normal enamel. Electron microscopy showed enamel affected by the KLK-4 mutation had a normal prismatic structure and generally had a well-organized and discernable crystallite composition. In some areas, globular structures were present where crystallites were not discernable or appeared to have an altered morphology. The KLK-4 mutant enamel had an increased protein content compared with normal enamel. Human enamel formed with a lack of functioning KLK-4 proteinase is altered primarily in the completeness of crystallite growth, while enamel thickness and prism structure remains essentially normal. Collectively, these studies suggest that the KLK-4 proteinase is essential for the final crystallite growth of enamel but is not critical for crystallite orientation, prism formation or enamel thickness.