Spearman Andrew D
Medical College of Wisconsin, 9000 Wisconsin Avenue, Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.
Congenit Heart Dis. 2017 Dec;12(6):828-833. doi: 10.1111/chd.12543. Epub 2017 Oct 5.
A genetic basis of congenital heart disease (CHD) has been known for decades. In addition to the sequence of the genome, the contribution of epigenetics to pediatric cardiology is increasingly recognized. Multiple epigenetic mechanisms, including DNA methylation, histone modification, and RNA-based regulation, are known mediators of cardiovascular disease, including both development and progression of CHD and its sequelae. Basic understanding of the concepts of epigenetics will be essential to all pediatric cardiologists in order to understand mechanisms of pathophysiology, pharmacotherapeutic concepts, and to understand the role of epigenetics in precision medicine.
先天性心脏病(CHD)的遗传基础已为人所知数十年。除了基因组序列外,表观遗传学对儿科心脏病学的贡献也越来越受到认可。多种表观遗传机制,包括DNA甲基化、组蛋白修饰和基于RNA的调控,是心血管疾病的已知介质,包括CHD及其后遗症的发生和发展。对表观遗传学概念的基本理解对所有儿科心脏病学家来说都是至关重要的,以便理解病理生理学机制、药物治疗概念,并理解表观遗传学在精准医学中的作用。