Extrachromosomal Circular DNA: Emerging Insights Into Cardiovascular Disease Mechanisms and Biomarker Potential

ABSTRACT Extrachromosomal circular DNA (eccDNA) has recently become a focus of cardiovascular disease (CVD) research as it is possibly involved in disease mechanisms and may function as a biomarker. The literature suggests that eccDNAs may modify gene expression patterns and contribute to the pathogenesis of diseases such as pulmonary arterial hypertension (PAH). Many eccDNAs have been reported to be upregulated in PAH patients with promisingly high diagnostic sensitivity and specificity values. The advent of eccDNA detection from plasma samples using high‐throughput sequencing technologies has opened new avenues for non‐invasive diagnosis. In this review, we focus on the role of eccDNA in CVDs, concentrating on its prospects for use as a biomarker of disease development and stage. However, further studies should be conducted to explicate the functional aspects of eccDNAs in cardiovascular health and disease. This work may eventually lead to the development of novel treatment options and improved clinical outcomes for CVD patients.

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Journal
iLABMED
Published
2025-06-29
DOI
https://doi.org/10.1002/ila2.70025
Primary Topic
Cancer Genomics and Diagnostics
Type
article
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Extrachromosomal Circular DNA: Emerging Insights Into Cardiovascular Disease Mechanisms and Biomarker Potential

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Extrachromosomal Circular DNA: Emerging Insights Into Cardiovascular Disease Mechanisms and Biomarker Potential

Jawairya Muhammad Hussain, Saim Mahmood Khan, Bushra Nadeem, Tahniyat Naseem, Hammad Jawed, Aina Lashari
article en

Abstract

ABSTRACT Extrachromosomal circular DNA (eccDNA) has recently become a focus of cardiovascular disease (CVD) research as it is possibly involved in disease mechanisms and may function as a biomarker. The literature suggests that eccDNAs may modify gene expression patterns and contribute to the pathogenesis of diseases such as pulmonary arterial hypertension (PAH). Many eccDNAs have been reported to be upregulated in PAH patients with promisingly high diagnostic sensitivity and specificity values. The advent of eccDNA detection from plasma samples using high‐throughput sequencing technologies has opened new avenues for non‐invasive diagnosis. In this review, we focus on the role of eccDNA in CVDs, concentrating on its prospects for use as a biomarker of disease development and stage. However, further studies should be conducted to explicate the functional aspects of eccDNAs in cardiovascular health and disease. This work may eventually lead to the development of novel treatment options and improved clinical outcomes for CVD patients.

iLABMED
Karachi Medical and Dental College (PK), Jinnah Sindh Medical University (PK), International Center for Chemical and Biological Sciences (PK), Sohail University
Good health and well-being
Openalex Percentile: Top 79%
Cancer Genomics and Diagnostics
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