The expanding role of epigenetics

Abstract

The 21st century is considered by many as the era of genomic medicine. Indeed, fascinating advances have been achieved both in terms of high-throughput technologies and biological insight, leading to a deeper understanding of human disease, improved diagnostic and prognostic tools and better therapeutic approaches. In cardiology, extensive work over decades has led to the identification of genetic and environmental factors contributing to disease pathogenesis. In hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) alone, hundreds of mutations in over 20 and 30 genes, respectively, have been identified to date, with approximately half of them discovered during the past 5 years. A variety of genetic variations, in an even greater number of genes, have been associated with variations in the pathological phenotype or in response to treatments. These genetic findings not only promote scientific knowledge, but also serve as the basis for pre-symptomatic and diagnostic genetic testing, revealing promising new therapeutic targets. However, genetics alone does not suffice to explain the full pathological spectrum and variable prognosis of these complex multifactorial heart diseases while available therapies are far from ideal. The latest advances in genomics are now opening the way to a new era for molecular cardiology with novel concepts and molecules meriting in-depth exploration. Through epigenetic, microRNA (miRNA) and modifier gene studies, all three basic levels of biological information namely, DNA, RNA and proteins, are being revisited, and exciting new discoveries are promising to change the way we view and combat heart disease. Epigenetics in molecular cardiology is the focus of this review.