Genetic Etiology and Dental Pulp Cell Deficiency of Hypophosphatasia
Genetic Etiology and Dental Pulp Cell Deficiency of Hypophosphatasia
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低磷酸酯酶症的遗传病因学和牙髓细胞缺陷
DOI：
10.1177/0022034510379017
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发表时间：
2010-12-01
影响因子：
7.6
通讯作者：
Ge, L.
中科院分区：
文献类型：
--
作者：
Liu, H.;Li, J.;Ge, L.
低磷酸酶症是由组织非特异性碱性磷酸酶（TNSALP）基因突变引起的牙本质结构缺陷。本研究的目的是研究牙髓细胞中TNSALP突变是否有助于牙本质发育不良的低磷酸酶症。突变分析显示，在3例低磷酸酶症患者中发现了TNSALP的复合杂合突变，其中包括3个新的突变位点。脱落的牙齿从病人表现出异常的牙本质矿化和牙骨质的损失，作为评估的地面切片和扫描电子显微镜分析。从其中一名患者分离的牙髓细胞显示出显着降低TNSALP活性和矿化能力相比，在牙髓细胞从未受影响的个人。提示低磷酸酶症患者牙本质发育不良可能与牙髓细胞矿化能力下降有关。
Hypophosphatasia is caused by mutations of the tissue-non-specific alkaline phosphatase (TNSALP) gene with deficiency of dentin structure. The aim of this study was to examine whether TNSALP mutation in dental pulp cells contributes to dentin dysplasia in hypophosphatasia. Mutation analysis showed that compound heterozygous mutations of TNSALP were identified in three hypophosphatasia patients, including 3 novel mutation sites. Exfoliated teeth from the patients showed abnormal dentin mineralization and loss of cementum, as assessed by ground sections and scanning electron microscope analysis. Dental pulp cells isolated from one of the patients showed a significantly reduced TNSALP activity and mineralization capacity when compared with those in dental pulp cells from the unaffected individuals. Our results suggested that dentin dysplasia in hypophosphatasia may be associated with the decreased mineralization ability of dental pulp cells.