Expression analysis of Foxa2 gene in NIPBL+/- deficient mice with cardiac atrial septal defect / 医学研究生学报

ABSTRACT

ObjectiveThe occurrence of atrial septal defect in Cornelia DE Lange syndrome are rarely reported in previous studies. The objective of this study is to investigate the relationship between the formation of atrial septal defect and Foxa2 gene expression in NIPBL+/- mouse model through the analysis of the expression of Foxa2 gene in heart tissue. MethodsThe NIPBL+/- mice were used as the experimental group, and wild-type NIPBL+/+ mice were used as the normal group. There were six mice in each group. The weights of the mice at 1, 2, 3, and 4 weeks were measured and recorded. Mouse heart tissues were collected at 4 weeks, and the expression of Foxa2 gene and protein were determined by real-time fluorescence quantitative PCR (Qrt-PCR) and Western blot. Pathological sections and HE staining were carried out to observe the effect of NIPBL gene defect on the development and changes of the mouse heart, as well as the anatomical structure of the atrial septum of the heart. ResultsThe weight of mice in the experimental group was significantly lower than that of the normal group (P<0.05) at all four time points. Foxa2 gene expression and protein expression in heart tissues of the experimental group were statistically lower than those of the normal group (P<0.05). Abnormal defect was observed in the atrial septum of the heart pathological sections of the NIPBL deficient mice. ConclusionThe decreased expression of Foxa2 gene in the heart tissue of NIPBL+/- deficient mice may be a factor inducing growth retardation and weight loss in mice. The abnormal defect in the atrial septum of nipbl-deficient mice might be associated with the down-regulation of Foxa2 gene expression in cardiomyocytes.