Non-invasive detection of human cardiomyocyte death using methylation patterns of circulating DNA

• DOI: 10.1038/s41467-018-03961-y
• Publication Date: 2018-04-11T14:24:11Z
• Authors: Hai Zemmour; David Planer; Judith Magenheim; Joshua Moss; Daniel Neiman; Dan Gilon; Amit Korach; Benjamin Glaser; Ruth Shemer; Giora Landesberg; Yuval Dor
• Keywords: Creatine kinase

Detection of cardiomyocyte death is crucial for the diagnosis and treatment heart disease. Here we use comparative methylome analysis to identify genomic loci that are unmethylated specifically in cardiomyocytes, develop these as biomarkers quantify DNA circulating cell-free (cfDNA) derived from dying cells. Plasma healthy individuals contains essentially no cfDNA, consistent with minimal cardiac turnover. Patients acute ST-elevation myocardial infarction show a robust cfDNA signal correlates levels troponin creatine phosphokinase (CPK), including expected elevation-decay dynamics following coronary angioplasty. sepsis have high concentrations strongly predict mortality, suggesting major role mortality sepsis. A biomarker may find utility monitoring pathologies study normal human physiology development.