A Changing Epigenome in Health and Disease

abstractIn mammals, epigenetic modifications play an essential role both in establishing transcription profiles and in organizing DNA architecture within the cell nucleus. Specifically, the role of epigenetic modifications in regulating X-chromosome inactivation, genomic imprinting and tissue-specific expression is widely recognized. In addition, the implied role of epigenetic modifications in cell differentiation and development has recently been highlighted by the recognition of the roles of epigenetic regulators or processes in a number of human diseases, including genetic disorders such as Alpha-thalassemia/mental retardation, X-linked (ATRX), Facioscapulohumeral muscular dystrophy (FSHD), Immunodeficiency-Centromere Instability-Facial anomalies (ICF) and Rett syndrome. Particular attention has been focused on the study of epigenetic alterations in cancer, which is the subject of intense multidisciplinary efforts and has an impact not only in understanding the mechanisms of epigenetic regulation but also in guiding the development of novel and promising therapies for cancer treatment. Initial data about epigenetic changes in cardiovascular, neurological and autoimmune disorders are also starting to emerge. The examples discussed herein not only summarize the widespread association of epigenetic alterations with disease, but also bring to central stage the importance of accomplishing different epigenome projects to understand this fundamental human biological process.