The molecular mechanisms of cardiac development and related diseases

IF 52.7 1区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Signal Transduction and Targeted Therapy Pub Date : 2024-12-23 DOI:10.1038/s41392-024-02069-8
Yingrui Li, Jianlin Du, Songbai Deng, Bin Liu, Xiaodong Jing, Yuling Yan, Yajie Liu, Jing Wang, Xiaobo Zhou, Qiang She
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Abstract

Cardiac development is a complex and intricate process involving numerous molecular signals and pathways. Researchers have explored cardiac development through a long journey, starting with early studies observing morphological changes and progressing to the exploration of molecular mechanisms using various molecular biology methods. Currently, advancements in stem cell technology and sequencing technology, such as the generation of human pluripotent stem cells and cardiac organoids, multi-omics sequencing, and artificial intelligence (AI) technology, have enabled researchers to understand the molecular mechanisms of cardiac development better. Many molecular signals regulate cardiac development, including various growth and transcription factors and signaling pathways, such as WNT signaling, retinoic acid signaling, and Notch signaling pathways. In addition, cilia, the extracellular matrix, epigenetic modifications, and hypoxia conditions also play important roles in cardiac development. These factors play crucial roles at one or even multiple stages of cardiac development. Recent studies have also identified roles for autophagy, metabolic transition, and macrophages in cardiac development. Deficiencies or abnormal expression of these factors can lead to various types of cardiac development abnormalities. Nowadays, congenital heart disease (CHD) management requires lifelong care, primarily involving surgical and pharmacological treatments. Advances in surgical techniques and the development of clinical genetic testing have enabled earlier diagnosis and treatment of CHD. However, these technologies still have significant limitations. The development of new technologies, such as sequencing and AI technologies, will help us better understand the molecular mechanisms of cardiac development and promote earlier prevention and treatment of CHD in the future.

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心脏发育及相关疾病的分子机制
心脏发育是一个涉及众多分子信号和途径的复杂过程。研究人员对心脏的发育进行了漫长的探索,从早期观察形态学变化的研究开始,到使用各种分子生物学方法探索分子机制。目前,干细胞技术和测序技术的进步,如人类多能干细胞和心脏类器官的产生、多组学测序和人工智能(AI)技术,使研究人员能够更好地了解心脏发育的分子机制。许多分子信号调节心脏发育,包括各种生长和转录因子和信号通路,如WNT信号、视黄酸信号和Notch信号通路。此外,纤毛、细胞外基质、表观遗传修饰和缺氧条件也在心脏发育中发挥重要作用。这些因素在心脏发育的一个甚至多个阶段起着至关重要的作用。最近的研究也发现了自噬、代谢转化和巨噬细胞在心脏发育中的作用。这些因子的缺乏或异常表达可导致各种类型的心脏发育异常。目前,先天性心脏病(CHD)的管理需要终身护理,主要包括手术和药物治疗。外科技术的进步和临床基因检测的发展使冠心病的早期诊断和治疗成为可能。然而,这些技术仍然有很大的局限性。新技术的发展,如测序和人工智能技术,将有助于我们更好地了解心脏发育的分子机制,促进未来冠心病的早期预防和治疗。
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来源期刊
Signal Transduction and Targeted Therapy
Signal Transduction and Targeted Therapy Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
44.50
自引率
1.50%
发文量
384
审稿时长
5 weeks
期刊介绍: Signal Transduction and Targeted Therapy is an open access journal that focuses on timely publication of cutting-edge discoveries and advancements in basic science and clinical research related to signal transduction and targeted therapy. Scope: The journal covers research on major human diseases, including, but not limited to: Cancer,Cardiovascular diseases,Autoimmune diseases,Nervous system diseases.
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