Cleft Lip and Palate Treatment Center, the Second Affiliated Hospital of Shantou University Medical College, Shantou, China.
Biochem Cell Biol. 2010 Aug;88(4):731-5. doi: 10.1139/O10-013.
Cleft lip and cleft palate are common congenital craniofacial birth defects in humans. Phenytoin (PHT) is a risk factor of cleft palate formation; however, the molecular mechanisms by which phenytoin exerts its teratogenic effects resulting in cleft palate remain unknown. The Satb2 gene mutation is associated with cleft palate. Satb2-deficient mice exhibit cleft palate deformity and an up-regulation of Hoxa2 in the fronto-nasal region. In this study, phenytoin was administered intraperitoneally to pregnant C57BL/6 mice on the 10th day of gestation. Real-time PCR results showed that the expressions of Satb2 and Hoxa2 in craniofacial tissues of mouse embryos were obviously different at different time points. The Satb2 gene was down-regulated and the Hoxa2 gene was up-regulated in phenytoin-treated mouse embryonic craniofacial tissue. We conclude that phenytoin may regulate the expression of these two genes in C57BL/6 mice and it may also be involved in the formation of cleft palate.
唇腭裂是人类常见的先天性颅面出生缺陷。苯妥英(PHT)是腭裂形成的危险因素;然而,苯妥英发挥致畸作用导致腭裂的分子机制尚不清楚。Satb2 基因突变与腭裂有关。Satb2 缺陷型小鼠表现出腭裂畸形和额鼻区域 Hoxa2 的上调。在这项研究中,在妊娠第 10 天给 C57BL/6 小鼠腹腔内给予苯妥英。实时 PCR 结果显示,在不同时间点,鼠胚胎颅面组织中 Satb2 和 Hoxa2 的表达明显不同。在苯妥英处理的鼠胚胎颅面组织中,Satb2 基因下调,Hoxa2 基因上调。我们得出结论,苯妥英可能调节 C57BL/6 小鼠中这两个基因的表达,它也可能参与腭裂的形成。