Shinde Uma, Balasinor Nafisa Huseni, Ravichandran Vinothkannan, Kumar Aw Santhosh, Gunasekaran Vinoth Prasanna
Center for Drug Discovery and Development, Amity Institute of Biotechnology, Amity University Mumbai (AUM), Maharashtra, India.
ICMR-National Institute for Research in Reproductive and Child Health (ICMR- NIRRCH), Parel, Mumbai, India.
Clin Chim Acta. 2025 Feb 15;568:120125. doi: 10.1016/j.cca.2025.120125. Epub 2025 Jan 8.
Extracellular vesicles (EVs) are nanoscale, membrane-enclosed structures released by cells into the extracellular milieu. These vesicles encapsulate a diverse array of molecular constituents, including nucleic acids, proteins, and lipids, which provide insights into the physiological or pathological conditions of their parent cells. Despite their potential, the study of EV-derived DNA (EV-DNA) has gathered relatively limited attention. This review aims to present a thorough examination of the emerging knowledge surrounding the utility of EV-DNA as a non-invasive biomarker across a spectrum of diseases. The review delves into various mechanisms underlying DNA packaging within EVs and the prevalent methodologies employed for extraction of EV-DNA. The relevance of EV-DNA is assessed across numerous health conditions, notably cancer, cardiovascular diseases, neurodegenerative disorders, infectious diseases, and pregnancy-related complications. The use of EV-DNA for cancer mutation detection has demonstrated remarkable sensitivity and specificity, thereby enhancing both diagnostic accuracy and therapeutic monitoring. In the context of cardiovascular diseases, EV-DNA serves as a predictive marker for events such as myocardial infarctions and shows a correlation with the severity of the disease. With respect to neurodegenerative conditions, including Parkinson's and Alzheimer's, EV-DNA contributes to the understanding of disease mechanisms and progression. Additionally, it plays an essential role in modulating immune tolerance and facilitating communication between maternal and fetal systems. Although there is a pressing need for standardized protocols for EV isolation and DNA analysis to facilitate clinical implementation, the prospect of EV-DNA as a non-invasive biomarker for diagnostic and prognostic purposes across diverse pathological conditions is considerable.
细胞外囊泡(EVs)是细胞释放到细胞外环境中的纳米级膜包裹结构。这些囊泡封装了各种各样的分子成分,包括核酸、蛋白质和脂质,它们提供了有关其母细胞生理或病理状况的见解。尽管它们具有潜力,但对EV衍生DNA(EV-DNA)的研究受到的关注相对有限。本综述旨在全面审视围绕EV-DNA作为多种疾病非侵入性生物标志物的新兴知识。该综述深入探讨了EVs内DNA包装的各种机制以及用于提取EV-DNA的常用方法。在众多健康状况下评估了EV-DNA的相关性,特别是癌症、心血管疾病、神经退行性疾病、传染病和妊娠相关并发症。使用EV-DNA进行癌症突变检测已显示出显著的敏感性和特异性,从而提高了诊断准确性和治疗监测水平。在心血管疾病方面,EV-DNA可作为心肌梗死等事件的预测标志物,并与疾病严重程度相关。对于包括帕金森病和阿尔茨海默病在内的神经退行性疾病,EV-DNA有助于理解疾病机制和进展。此外,它在调节免疫耐受以及促进母胎系统之间的通讯中起着至关重要的作用。尽管迫切需要标准化的EV分离和DNA分析方案以促进临床应用,但EV-DNA作为跨多种病理状况用于诊断和预后目的的非侵入性生物标志物的前景相当可观。