Ischemic Arterial Expansion Resulting from Congenital Disorders, Diseases, and AlterationsAuthor(s): Wasim Ghazi
Advances in genomics, bioinformatics and genome editing have revealed new dimensions of gene regulation. Post-transcriptional modification of mRNA transcripts by alternative splicing is an important regulatory mechanism of mammalian gene expression. In general, there is growing interest in elucidating the role of alternative splicing in transcriptome regulation. Considerable effort has been expended to study this process in heart development and heart failure. However, only a few studies provide information on alternative splicing products and dysregulation in congenital heart disease (CAD). Although sophisticated reports have demonstrated a critical role for RNA-binding proteins (RBPs) in splice-site coordination during cardiac development and dysfunction, the impact of RBP dysregulation or genetic mutations on CAD is limited. I’m here. gain. not fully addressed. Here, we review our current understanding of alternative splicing and the role of his RBP in heart development and CAD. We describe the effects of perinatal splicing transitions and their dysregulation on CAD. In addition, we summarize results for splice variants responsible for key transcription factors involved in CAD. A better understanding of the role of alternative splicing in cardiac development and CAD may lead to new advances in the prevention and treatment of neonates with CAD.