Epigenetics and disease

Research output: Chapter or section in a book/report/conference proceedingChapter or section


Epigenetic mechanisms may actually initiate or drive disease processes, rather than present as historical markers of previous pathological events. Mendelian disorders that manifest as epigenetic diseases may arise through inheriting mutations in genes encoding DNA and chromatin modifiers as well as nucleosomal and architectural proteins. Because these proteins have pleiotropic effects on the expression of several genes, their mutation can result in complex phenotypes, masking their causal Mendelian origins. In contrast to Mendelian epigenetic diseases, epimutations such as aberrant DNA methylation can result in congenital non-Mendelian diseases such as genomic imprinting disorders. Acquired genetic mutations as well as epimutations can drive late onset diseases such as cancer. This review will examine the balance between genetic and epigenetic interactions, highlighting examples of congenital diseases caused through Mendelian and non-Mendelian transmission. Therapeutic epigenetic intervention strategies are increasingly being developed and we now have the potential for reversing even developmentally-induced mental retardation, by normalising epigenetically controlled gene expression.

Original languageEnglish
Title of host publicationEpigenetics for Drug Discovery
EditorsN. Carey
Place of PublicationAbingdon, U. K.
PublisherRoyal Society of Chemistry
Number of pages21
ISBN (Print)9781849738828
Publication statusPublished - Nov 2015

Publication series

NameRSC Drug Discovery Series
VolumeJanuary 2016


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