Current Understanding of Epigenomics and Epigenetics in Neurodevelopmental Disorders

Abstract

Epigenetics is a mechanism that regulates gene expression not depending on the underlying DNA sequence, but on the chemical modification of DNA and histone proteins. It is known that several neurodevelopmental disorders are caused by congenital abnormalities in epige‐ netic mechanisms, including Prader-Willi and Angelman syndromes, which are genomic imprinting disorders [1-3]. The advances in understanding of the epigenetic gene regulation mechanisms and identification of proteins that participate in them have led to the identification of other neurodevelopmental disorders, such as ICF and Rett syndromes, caused by mutations in the genes that encode such proteins [4-8]. The discovery of Rett syndrome, a representative autistic disorder caused by mutations in MECP2 that encodes an epigenetic regulatory protein, introduced to us a new paradigm that neurodevelopmental disorders are not only caused by mutations in the neuronal genes [9, 10], but also caused by abnormal epigenetic regulation of the neuronal genes.