Review

心血管疾病中的核酸液体活检：无细胞DNA液体活检在心血管疾病中的应用

Nucleic acid liquid biopsies in cardiovascular disease: Cell-free DNA liquid biopsies in cardiovascular disease

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ATHEROSCLEROSIS

影响因子:5.7

分区:医学2区 Top / 外周血管病2区心脏和心血管系统3区

发表日期:2024 Nov

作者: Tyler Artner, Smriti Sharma, Irene M Lang

DOI: 10.1016/j.atherosclerosis.2024.118583

摘要

心血管疾病（CVD）是全球死亡的主要原因，尽管采取了治疗措施，但心血管功能并不总能恢复，疾病的进展也难以预防。关键的洞察往往依赖于组织样本。目前对组织病理的了解主要依赖侵入性活检或尸检样本。液体活检通过评估循环介质以推断远端组织的组织学和病理变化，在癌症研究中迅速发展，提供了一种有望转化为心血管疾病理解和治疗的前沿方法。在急性和慢性心血管条件下，细胞游离DNA（cfDNA）的升高已被广泛观察到，与疾病严重程度和预后相关。中性粒细胞胞外陷阱（NETs）和循环核酸酶在血栓形成中的作用为液体活检在心血管疾病中的应用提供了坚实的理论基础。cfDNA来源于各种组织类型和细胞来源，包括线粒体和细胞核，能够追踪细胞和组织的谱系，以及提供细胞激活状态的见解。本文讨论了cfDNA的起源、结构及其潜在应用，为理解心血管疾病的复杂性提供了一种更深入、更少侵入性的方法。

Abstract

Cardiovascular disease (CVD) is the leading cause of death worldwide, and despite treatment efforts, cardiovascular function cannot always be restored, and progression of disease be prevented. Critical insights are oftentimes based on tissue samples. Current knowledge of tissue pathology typically relies on invasive biopsies or postmortem samples. Liquid biopsies, which assess circulating mediators to deduce the histology and pathology of distant tissues, have been advancing rapidly in cancer research and offer a promising approach to be translated to the understanding and treatment of CVD. The widely understood elevations in cell-free DNA during acute and chronic cardiovascular conditions, associate with disease, severity, and offer prognostic value. The role of neutrophil extracellular traps (NETs) and circulating nucleases in thrombosis provide a solid rationale for liquid biopsies in CVD. cfDNA originates from various tissue types and cellular sources, including mitochondria and nuclei, and can be used to trace cell and tissue type lineage, as well as to gain insight into the activation status of cells. This article discusses the origin, structure, and potential utility of cfDNA, offering a deeper and less invasive approach for the understanding of the complexities of CVD.