An update on the cell-free DNA-derived methylome as a non-invasive biomarker for coronary artery disease

Area of Science:

• Cardiovascular Epigenetics
• Molecular Cardiology
• Genomics

Background:

• Cardiovascular diseases (CVDs) are a leading cause of global mortality.
• Coronary artery disease (CAD), marked by atherosclerotic plaque, presents major health and economic challenges.
• Epigenetic factors, including DNA methylation, significantly influence CAD pathogenesis.

Purpose of the Study:

• To review the role of epigenetic regulation in CAD development and progression.
• To explore the potential of cell-free DNA as a minimally invasive biomarker for CAD.
• To discuss methodologies for studying methylome and hydroxy-methylome landscapes in CAD.

Main Methods:

• Review of current literature on epigenetics and CAD.
• Analysis of DNA methylation patterns in relation to CAD risk factors.
• Evaluation of cell-free DNA analysis for detecting tissue-specific epigenetic alterations.

Main Results:

• Abnormal DNA methylation is linked to altered gene expression in lipid metabolism, inflammation, and vascular function in CAD.
• Cell-free DNA released during myocardial infarction (MI) offers a potential source for epigenetic biomarker discovery.
• Various methodologies exist for methylome and hydroxy-methylome analysis, each with advantages and limitations.

Conclusions:

• Epigenetic alterations are integral to CAD pathogenesis, offering therapeutic and diagnostic targets.
• MI-derived cell-free DNA holds promise for developing minimally invasive CAD biomarkers.
• Further research is needed to overcome challenges in utilizing cell-free DNA for CAD diagnostics.