RNA 结合蛋白在心血管发育和疾病中的作用。

RNA binding proteins in cardiovascular development and disease.

机构信息

Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine Charlottesville, VA, United States.

Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine Charlottesville, VA, United States; Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA, United States; University of Virginia Cancer Center, Charlottesville, VA, United States.

出版信息

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.

摘要

先天性心脏病(CHD)是影响全球超过 135 万新生儿的最常见出生缺陷。CHD 可导致产前、新生儿期、产后致死或终生心脏并发症。RNA 结合蛋白(RBP)突变或变体已成为 CHD 的致病因素之一。RBPs 是基因调控的魔术师,是 mRNA 和蛋白质图谱的主要贡献者。然而,对于发育中的心脏中的 RBPs 及其对 CHD 的贡献,我们知之甚少。在这一章中,我们将讨论我们目前对与 CHD 相关的特定 RBPs 的了解。我们正处于一个激动人心的时代,可以使用当前可用的、非常成功的基于 RNA 的治疗方法和方法来研究 RBPs。了解 RBPs 如何塑造发育中的心脏将揭示它们对 CHD 的贡献。确定胚胎心脏中它们的靶 RNA 将最终导致基于 RNA 的先天性心脏病治疗方法。

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