Role of Epigenetics in Biology and Human Diseases

Abstract

For a long time, scientists have tried to describe disorders just by genetic or environmental factors. However, the role of epigenetics in human diseases has been considered from a half of century ago. In the last decade, this subject has attracted many interests, especially in complicated disorders such as behavior plasticity, memory, cancer, autoimmune disease, and addiction as well as neurodegenerative and psychological disorders. This review first explains the history and classification of epigenetic modifications, and then the role of epigenetic in biology and connection between the epigenetics and environment are explained. Furthermore, the role of epigenetics in human diseases is considered by focusing on some diseases with some complicated features, and at the end, we have given the future perspective of this field. The present review article provides concepts with some examples to reveal a broad view of different aspects of epigenetics in biology and human diseases.

Keywords: DNA methylation; DNA modification; Gene expression.

Fig. 1

Three major epigenetic modification mechanisms. A) DNA methylation. DNA methylation is mediated by DNA methyltransferase enzymes at CpG sites. It can also decrease gene expression by reducing the binding of transcription factors or increasing the binding of methyl-CpG binding proteins[11,12,59,100]. B) Histone modification. Histone acetylation, particularly in lysine residues of histone tails, is an important histone modification that can accelerate binding transcription factors and then gene expression beside DNA demethylation[18,59]. C) miRNA. The formation of miRNA begins in nucleus and continues in cytosol that can perform a mechanism to regulate gene expression in mRNA level[101].