Epigenetics in Congenital Heart Disease.
Epigenetics in Congenital Heart Disease.
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先天性心脏病的表观遗传学。
DOI：
10.1161/jaha.121.025163
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发表时间：
2022-04-05
影响因子：
5.4
通讯作者：
Yang, Peixin
中科院分区：
文献类型：
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作者：
Wang, Guanglei;Wang, Bingbing;Yang, Peixin
胚胎心脏的发育是一个复杂的过程，主要涉及形态发生因子、转录因子和心脏基因。这些基因在不同发育阶段的精确时空表达是正常心脏发育的基础。因此，这些基因的突变或异常表达可能导致先天性心脏病（CHD）。然而，证据表明，基因突变只占CHD病例的一小部分，而表观遗传修饰调控的异常表达在CHD的发病机制中起主导作用。在这篇综述中，我们提供了重要的知识异常表观遗传修饰参与冠心病的发病机制。然后，我们讨论了新的表观遗传生物标志物的鉴定的最新进展。最后，我们强调了表观遗传学在一些不良宫内环境相关CHD中的作用，这可能有助于预防，诊断和治疗这些类型的CHD。
Embryonic heart development is an intricate process that mainly involves morphogens, transcription factors, and cardiac genes. The precise spatiotemporal expression of these genes during different developmental stages underlies normal heart development. Thus, mutation or aberrant expression of these genes may lead to congenital heart disease (CHD). However, evidence demonstrates that the mutation of genes accounts for only a small portion of CHD cases, whereas the aberrant expression regulated by epigenetic modification plays a predominant role in the pathogenesis of CHD. In this review, we provide essential knowledge on the aberrant epigenetic modification involved in the pathogenesis of CHD. Then, we discuss recent advances in the identification of novel epigenetic biomarkers. Last, we highlight the epigenetic roles in some adverse intrauterine environment‐related CHD, which may help the prevention, diagnosis, and treatment of these kinds of CHD.