The Human Epigenome—Implications for the Understanding of Human Disease

Epigenetic processes, defined as the heritable patterns of gene expression that do not involve changes in the sequence of the genome, and their effects on gene repression are increasingly understood to be such a way of modulating phenotype transmission and development. The patterns of DNA methylation, histone modifications, microRNAs, and several chromatin-related proteins of sick cells usually differ from those of healthy cells, highlighting the importance of epigenetic regulation in most human pathologies. This chapter provides an overview of how epigenetic factors contribute to the development of human diseases, such as abnormal imprinting-causative pathologies, cancer malignancies, as well as autoimmune, cardiovascular, and neurological disorders. These studies have provided extensive information about the mechanisms that contribute to the phenotype of human diseases, but also provided opportunities for therapy.