Applications of Epigenetic Technologies in the Understanding of Complex Diseases

Epigenetics is a relatively new field of research that focuses on the regulation of gene expression without changes in the DNA sequence. DNA methylation and histone modification play a major role in epigenetic mechanisms occurring in mammalian cells. Since there has been much evidence linking epigenetic abnormalities to a wide array of human diseases, including cancer and other complex disorders, the study of epigenetic processes can lead to a better understanding of disease etiologies. Furthermore, the examination of epigenetic events may also shed light on the future diagnosis and treatment of related diseases. In this paper, emphasis is placed on DNA methylation, and two complementary technologies used to interrogate methylation profiles, microarray and pyrosequencing, are described.