Peterson Joshua C, Kelder Tim P, Goumans Marie José T H, Jongbloed Monique R M, DeRuiter Marco C
Department Anatomy & Embryology, Leiden University Medical Center, 2300RC Leiden, The Netherlands.
Department Cellular and Chemical Biology, Leiden University Medical Center, 2300RC Leiden, The Netherlands.
J Cardiovasc Dev Dis. 2021 Apr 26;8(5):47. doi: 10.3390/jcdd8050047.
Whilst knowledge regarding the pathophysiology of congenital heart disease (CHDs) has advanced greatly in recent years, the underlying developmental processes affecting the cardiac outflow tract (OFT) such as bicuspid aortic valve, tetralogy of Fallot and transposition of the great arteries remain poorly understood. Common among CHDs affecting the OFT, is a large variation in disease phenotypes. Even though the different cell lineages contributing to OFT development have been studied for many decades, it remains challenging to relate cell lineage dynamics to the morphologic variation observed in OFT pathologies. We postulate that the variation observed in cellular contribution in these congenital heart diseases might be related to underlying cell lineage dynamics of which little is known. We believe this gap in knowledge is mainly the result of technical limitations in experimental methods used for cell lineage analysis. The aim of this review is to provide an overview of historical fate mapping and cell tracing techniques used to study OFT development and introduce emerging technologies which provide new opportunities that will aid our understanding of the cellular dynamics underlying OFT pathology.
近年来，尽管关于先天性心脏病（CHD）病理生理学的知识有了很大进展，但影响心脏流出道（OFT）的潜在发育过程，如二叶主动脉瓣、法洛四联症和大动脉转位，仍知之甚少。在影响OFT的先天性心脏病中，常见的是疾病表型存在很大差异。尽管对参与OFT发育的不同细胞谱系已经研究了几十年，但将细胞谱系动态与OFT病理中观察到的形态学变异联系起来仍然具有挑战性。我们推测，在这些先天性心脏病中观察到的细胞贡献差异可能与潜在的细胞谱系动态有关，而对此知之甚少。我们认为，这一知识空白主要是用于细胞谱系分析的实验方法存在技术局限性所致。本综述的目的是概述用于研究OFT发育的历史命运图谱和细胞追踪技术，并介绍新兴技术，这些技术提供了新的机会，将有助于我们理解OFT病理背后的细胞动态。
