Investigating gene expression - and DNA methylation profiles in coronary artery disease

There has been an urgent need for novel and less invasive diagnostic techniques to detect atherosclerotic plaques within arteries, which are declared a significant contributor to coronary artery disease (CAD), a leading cause of mortality globally. Existing state-of-the-art detection approaches, such as coronary angiography, are invasive and associated with radiation exposure for the patient. To come up with a solution to these demands, this study explores the potential of mRNA and DNA methylation biomarkers from blood.
The primary focus has been investigating alterations in DNA methylation status and RNA expression patterns between individuals with atherosclerotic stenosis and healthy counterparts. The aim was to pinpoint specific DNA methylation and gene expression changes associated with stenosis, with the overarching goal of contributing to developing early predictive biomarkers for the disease. The mRNA sequencing results underscored the presence of significant differentially expressed genes in the disease group compared to controls, with some genes already known from literature to be linked to cardiovascular diseases. Notably, many of these genes are implicated in the inflammatory process.
Additionally, identifying differentially methylated CpG sites within these genes shed light on potential epigenetic influences on gene expression patterns. These findings enhance our understanding of the interplay between epigenetic factors and gene expression in atherosclerosis and, nonetheless, pave the way for targeted therapeutic interventions and the development of early diagnostic biomarkers for coronary artery disease. This research further represents a crucial step toward addressing the pressing need for non-invasive diagnostic tools and advancing our ability to predict and manage atherosclerotic stenosis, which is already at an early disease stage.