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Insights into Dental Mineralization from Three Heritable Mineralization Disorders.
Journal of Structural Biology ( IF 3.0 ) Pub Date : 2020-08-03 , DOI: 10.1016/j.jsb.2020.107597
Michael B Chavez 1 , Kaitrin Kramer 2 , Emily Y Chu 3 , Vivek Thumbigere-Math 4 , Brian L Foster 1
Affiliation  

Teeth are comprised of three unique mineralized tissues, enamel, dentin, and cementum, that are susceptible to developmental defects similar to those affecting bone. X-linked hypophosphatemia (XLH), caused by PHEX mutations, leads to increased fibroblast growth factor 23 (FGF23)-driven hypophosphatemia and local extracellular matrix disturbances. Hypophosphatasia (HPP), caused by ALPL mutations, results in increased levels of inorganic pyrophosphate (PPi), a mineralization inhibitor. Generalized arterial calcification in infancy (GACI), caused by ENPP1 mutations, results in vascular calcification due to decreased PPi, later compounded by FGF23-driven hypophosphatemia. In this perspective, we compare and contrast dental defects in primary teeth associated with XLH, HPP, and GACI, briefly reviewing genetic and biochemical features of these disorders and findings of clinical and preclinical studies to date, including some of our own recent observations. The distinct dental defects associated with the three heritable mineralization disorders reflect unique processes of the respective dental hard tissues, revealing insights into their development and clues about pathological mechanisms underlying such disorders.



中文翻译:

从三种遗传性矿化障碍对牙齿矿化的洞察。

牙齿由三种独特的矿化组织组成,即牙釉质、牙本质和牙骨质,它们容易出现类似于影响骨骼的发育缺陷。由PHEX突变引起的 X 连锁低磷血症 (XLH)导致成纤维细胞生长因子 23 (FGF23) 驱动的低磷血症和局部细胞外基质紊乱增加。由ALPL突变引起的磷酸酯酶(HPP) 导致无机焦磷酸盐 (PP i )(一种矿化抑制剂)水平升高。由ENPP1突变引起的婴儿期全身动脉钙化 (GACI),由于 PP i降低导致血管钙化,后来由 FGF23 驱动的低磷血症加剧。从这个角度来看,我们比较和对比了与 XLH、HPP 和 GACI 相关的乳牙缺损,简要回顾了这些疾病的遗传和生化特征以及迄今为止的临床和临床前研究结果,包括我们自己最近的一些观察结果。与三种可遗传的矿化障碍相关的不同牙齿缺陷反映了各自牙齿硬组织的独特过程,揭示了对其发展的见解和有关此类疾病潜在病理机制的线索。

更新日期:2020-08-11
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