Progress in the pathogenesis of congenital bicuspid aortic valves and the associated complications / 国际儿科学杂志

Congenital bicuspid aortic valves(BAV)is one of the most common congenital heart diseases.It is generally diagnosed by echocardiography when deterioration of the abnormal leaflets becomes clinically evident.Patients with BAV are at increased risks of developing serious complications, including aortic stenosis, aortic regurgitation, aortic dilation, aortic dissection and/or aneurysm, which seriously threatens the health of patients.Although its diagnosis and surgical treatment have been clear, the specific pathogenesis has not been completely revealed.Recently, studies have found that gene mutations and related signaling pathway abnormalities are associated with BAV and its complications.And epigenetics and environmental factors are involved in the development and progress of BAV.Understanding the underlying cellular and molecular basis of normal and pathological aortic valve development may improve the preventative and therapeutic approaches to valve degeneration.

Association between MeCP2 and proliferative vitreoretinopathy under the regulation of tumor necrosis factor / 中华实验眼科杂志

Proliferative vitreoretinopathy (PVR) is an ocular fundus disease involving multiple cytokines.Its important pathological process is epithelial-mesenchymal transition (EMT) of retinal pigment epithelium (RPE) cells.Tumor necrosis factor (TNF) is an important inflammatory response inducing factor, which can be produced by activated RPE cells, microglia, monocytes and macrophages, and then participate in the occurrence and development of PVR.In addition to cytokines, epigenetic factors such as DNA methylation also play an important role in the development of PVR, in which methyl-CpG binding protein 2(MeCP2) is involved in EMT and fibrosis, and is highly expressed in PVR membrane.The positive expression of MeCP2 is also found in transformed RPE cells and microglia.It is speculated that MeCP2 plays an important role in the occurrence and development of PVR.TNF can also stimulate the expression of MeCP2.This article reviews the role of MeCP2 and the interaction between TNF and MeCP2 in the formation of PVR.

The correlation between mutations in the promoter region of TBX 1 gene and conotruncal heart defects / 临床儿科杂志

Objective To explore the correlation between mutations in the promoter region of TBX1 gene and conotruncal heart defects. Methods A total of 621 children with conotruncal heart defects were recruited. Multiplex ligation-dependent probe ampliifcation (MLPA) was used to detect the copy numbers of chromosomal region 22 q 11 . 2 . Children with 22 q 11 . 2 deletion were excluded. Polymerase chain reaction ampliifcation (PCR) and gene sequencing were applied to analyze promoter region of TBX 1 (-2000 ..+1 ) in 605 children with conotruncal heart defects without 22 q 11 . 2 deletion and 588 healthy children. Bioinformatics software was used to predict and analyze the function of the variable loci. Results There were mutations in the promoter region of TBX 1 gene in children with conotruncal heart defects, including 3 single nucleotide polymorphisms (SNP) sites and 7 rare loci. The incidence of mutation was 1 . 7%. The analysis of 7 rare loci by AliBaba 2 . 1 to showed that 3 of them may inlfuence the combination of trans-acting factors and cis-acting elements of the promoter of TBX 1 gene. Conclusion The mutation in the TBX 1 promoter region may be related to the occurrence of conotruncal heart defects.