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.
ABSTRACT
OBJECTIVE@#To study the expression of Shh and Wnt5a genes in the limb buds of NIPBL fetal rats and the association of these two genes with Cornelia de Lange syndrome (CdLS).@*METHODS@#A total of 72 NIPBL fetal rats were divided into an experimental group and a control group, with 36 rats in each group. The limb buds were collected from 12 fetal rats each on embryonic days 10, 11 and 12 (E10, E11 and E12) respectively. Real-time PCR and Western blot were used to measure the mRNA and protein expression of Shh and Wnt5a.@*RESULTS@#The mRNA and protein expression of Shh and Wnt5a was detected in the limb buds on E10, E11 and E12, and the experimental group had significantly lower expression than the control group (P<0.01). The mRNA and protein expression of Shh and Wnt5a in limb buds was at a low level on E10, followed by an increase on E11 and a reduction on E12, and the expression on E12 was still lower than that on E10 (P<0.01).@*CONCLUSIONS@#The mRNA and protein expression of Shh and Wnt5a are consistent. The pathogenesis of CdLS may be associated with the low mRNA and protein expression of Shh and Wnt5a inhibited by the low expression of NIPBL gene.