RNA binding proteins in cardiovascular development and disease

Curr Top Dev Biol. 2024:156:51-119. doi: 10.1016/bs.ctdb.2024.01.007. Epub 2024 Mar 15.

Abstract

Congenital heart disease (CHD) is the most common birth defect affecting>1.35 million newborn babies worldwide. CHD can lead to prenatal, neonatal, postnatal lethality or life-long cardiac complications. RNA binding protein (RBP) mutations or variants are emerging as contributors to CHDs. RBPs are wizards of gene regulation and are major contributors to mRNA and protein landscape. However, not much is known about RBPs in the developing heart and their contributions to CHD. In this chapter, we will discuss our current knowledge about specific RBPs implicated in CHDs. We are in an exciting era to study RBPs using the currently available and highly successful RNA-based therapies and methodologies. Understanding how RBPs shape the developing heart will unveil their contributions to CHD. Identifying their target RNAs in the embryonic heart will ultimately lead to RNA-based treatments for congenital heart disease.

Keywords: Alternative polyadenylation; Alternative splicing; Congenital heart defects; Heart development; RNA binding protein; mRNA.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Heart Defects, Congenital* / genetics
  • Heart*
  • Humans
  • Infant, Newborn
  • Pregnancy
  • RNA
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / metabolism

Substances

  • RNA, Messenger
  • RNA
  • RNA-Binding Proteins