Epigenetic phenomena are defined as heritable mechanisms that establish and maintain mitotically stable patterns of gene expression without modifying the base sequence of DNA. The major epigenetic features of mammalian cells include DNA methylation, post-translational histone modifications and RNA-based mechanisms including those controlled by small non-coding RNAs (miRNAs).
The term cardiovascular epigenetics refers to heritable changes in cardiac gene expression (active versus inactive genes) that does not involve changes to the underlying DNA sequence, a change in phenotype without a change in genotype. The impact of epigenetic mechanisms in cardiovascular pathophysiology is now emerging as a major player in the interface between genotype to phenotype variability.
An important aspect of epigenetic mechanisms is that they are potentially reversible and may be influenced by nutritional-environmental factors and through gene–environment interactions, all of which have an important role in complex, multifactorial diseases such as those affecting the cardiovascular system. Gene expression regulation through the interplay of DNA methylation and histone modifications is well-established, although the knowledge about the function of epigenetic signatures in cardiovascular disease is still largely unexplored