Epigenetics

Abstract

Epigenetics is the study of heritable changes to the genome and gene expression patterns that are not caused by direct changes to the DNA sequence. Examples of these changes include posttranslational modifications to DNA-bound histone proteins, DNA methylation, and remodeling of nuclear architecture. Collectively, epigenetic changes provide a layer of regulation that affects transcriptional activity of genes while leaving DNA sequences unaltered. Sequence variants or mutations affecting enzymes responsible for modifying or sensing epigenetic marks have been identified in patients with congenital heart disease (CHD), and small-molecule inhibitors of epigenetic complexes have shown promise as therapies for adult heart diseases. Additionally, transgenic mice harboring mutations or deletions of genes encoding epigenetic enzymes recapitulate aspects of human cardiac disease. Taken together, these findings suggest that the evolving field of epigenetics will inform our understanding of congenital and adult cardiac disease and offer new therapeutic opportunities.

Keywords: Acetylation; BAF; BET; Baf45c; Brg1; Brg1-associated factor; CHD7; Chromatin; Chromatin organization; Chromatin remodeler complex; Cohesin; DNA methylation; Embryonic stem cell; Epigenetic marks; Epigenetics; Euchromatic; HAT; HDAC; HDAC1; HDAC2; HDAC3; HDAC5; HDAC7; HDAC9; Histone; Histone acetyltransferase; Histone deacetylase; Histone methylation; Histone methyltransferase; Histone modification; Ino80; Jumonji; Kabuki syndrome; Lamins; MECP2; MLL2; Methylation; Nuclear lamina; Nucleoporin; Nucleosome; SWI/SNF complex; Sirtuins; Smyd; Wolf–Hirschhorn syndrome.