Methylation Profile of Cell-Free DNA as a Diagnostic Marker for Myocarditis

• Published in: Bulletin of the Russian Military Medical Academy Vol. 27; no. 2; pp. 277 - 284
• Main Authors: Zykova, Anna V., Malyshkin, Svyatoslav S., Mullin, Evgeny V., Krivoruchko, Alexander B.
• Format: Journal Article
• Language: English
• Published: 23.06.2025
• ISSN: 1682-7392; 2687-1424
• DOI: 10.17816/brmma636142

Studies on epigenetic modifications that could enable the tissue-specific partitioning of a general pool of circulating cell-free DNA for diagnosing myocarditis were analyzed. Despite the long history of research on cardiovascular disease, the actual incidence of myocarditis within the population remains unclear, as the condition is difficult to detect using conventional diagnostic methods. The advantages of screening a pool of cell-free DNA in the peripheral blood for detecting various pathologies (such as cancer, fetal aneuploidies, and transplant rejection) have been acknowledged worldwide. However, this approach is limited when analyzing the cell-free DNA derived from the reference genome. DNA methylation is one of the most crucial and well-studied mechanisms of epigenetic regulation. The aberrant methylation status of candidate genes is implicated in the development of cardiovascular diseases and may serve as a marker for assessing their progression. The methylation patterns are unique to each cell type, remain consistent among the same cell type within an individual, and are characterized by high stability. The studies reviewed identified loci associated with cardiomyocyte-specific patterns of DNA methylation. Moreover, in various diseases of the circulatory system, the same cytosine–guanine dinucleotide sites were found to be differentially methylated. This finding not only confirms the close association between DNA methylation profiles and cardiovascular diseases but also supports the hypothesis that the methylation status of specific cytosine–guanine dinucleotide sites has high diagnostic specificity for various pathologies. Thus, an analysis of cell-free DNA methylation profiles confirms its tissue-specific origin and enables the development of highly specific diagnostic approaches for myocardial disorders. Furthermore, comparing the methylation levels of identical cytosine–guanine dinucleotide sites offers promising opportunities for the development of highly specific diagnostic systems for myocarditis and other cardiovascular diseases.