Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesis.

摘要: Congenital heart disease (CHD) is one of most common birth defects, causing fetal loss and death in newborn all over the world. Atrial ventricular septal defects were CHD subtypes districts. During past decades, several genes identified to control atrial septum formation, mutations these can cause cardiac septation defects. However, pathogenic mechanism ASD on transcriptional levels has not been well elucidated yet. Herein, we performed comparative transcriptome analysis between normal defect (ASD) patients by Illumina RNA sequencing (RNA-seq). Advanced bioinformatic analyses employed identify dysregulated ASD. The results indicated that specific factors (GATA4 NKX2-5), extracellular signal molecules (VEGFA BMP10) sarcomeric proteins (MYL2, MYL3, MYH7, TNNT1 TNNT3) downregulated which may affect cardiomyocyte proliferation muscle development. Importantly, cell cycle was dominant pathway among genes, decreased expression included disturb growth differentiation during formation. Our study provided evidences understanding resource for validation genomic studies.