Department of Biomedical Sciences, Texas A&M University College of Dentistry, Dallas, Texas, USA.
Eur J Oral Sci. 2021 Jun;129(3):e12795. doi: 10.1111/eos.12795. Epub 2021 Apr 27.
FAM20C (family with sequence similarity 20-member C), a kinase that phosphorylates secretory proteins, plays essential roles in various biological processes. In humans, mutations in FAM20C gene cause Raine syndrome, an autosomal recessive hereditary disease manifesting a broad spectrum of developmental defects including skeletal and craniofacial deformities. Our previous studies revealed that inactivation of Fam20c in mice led to hypophosphatemic rickets and that high phosphate (hPi) diet significantly improved the development of the skeleton in Fam20c-deficient mice. In this study, we evaluated the effects of hPi diet on the formation of dentin in Fam20c-deficient mice, using plain x-ray radiography, micro-computed tomography (µCT), histology, and immunohistochemistry. Plain x-ray radiography and µCT analyses showed that the hPi diet improved the dentin volume fraction and dentin mineral density of the Fam20c-deficient mice. Histology analyses further demonstrated that the hPi diet dramatically improved the integrity of the mandibular first molars and prevented pulp infection and dental abscesses in Fam20c-deficient mice. Our results support that the hPi diet significantly increased the formation and mineralization of dentin in Fam20c-deficient mice, implying that hypophosphatemia is a significant contributor to the dentin defects in Fam20c-deficient subjects.
FAM20C(家族与序列相似性 20 成员 C)是一种磷酸化分泌蛋白的激酶,在各种生物过程中发挥着重要作用。在人类中,FAM20C 基因突变会导致 Raine 综合征,这是一种常染色体隐性遗传疾病,表现出广泛的发育缺陷,包括骨骼和颅面畸形。我们之前的研究表明,敲除 Fam20c 基因的小鼠会导致低磷血症性佝偻病,而高磷(hPi)饮食可显著改善 Fam20c 缺陷型小鼠骨骼的发育。在这项研究中,我们使用普通 X 射线射线照相、微计算机断层扫描(µCT)、组织学和免疫组织化学评估了 hPi 饮食对 Fam20c 缺陷型小鼠牙本质形成的影响。普通 X 射线射线照相和 µCT 分析表明,hPi 饮食改善了 Fam20c 缺陷型小鼠的牙本质体积分数和牙本质矿化密度。组织学分析进一步表明,hPi 饮食显著改善了下颌第一磨牙的完整性,并防止了 Fam20c 缺陷型小鼠的牙髓感染和齿龈脓肿。我们的结果支持 hPi 饮食显著增加 Fam20c 缺陷型小鼠牙本质的形成和矿化,这表明低磷血症是 Fam20c 缺陷型患者牙本质缺陷的重要原因。