Epigenetics and disease

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.

LanguageEnglish
Title of host publicationEpigenetics for Drug Discovery
EditorsN. Carey
Place of PublicationAbingdon, U. K.
PublisherRoyal Society of Chemistry
Pages47-67
Number of pages21
ISBN (Print)9781849738828
DOIs
StatusPublished - Nov 2015

Publication series

NameRSC Drug Discovery Series
No.48
VolumeJanuary 2016

Fingerprint

Epigenomics
Mutation
Genomic Imprinting
Gene Expression
DNA Methylation
Intellectual Disability
Chromatin
Proteins
Phenotype
DNA
Genes
Neoplasms
Drive
Therapeutics

Cite this

Murrell, A. (2015). Epigenetics and disease. In N. Carey (Ed.), Epigenetics for Drug Discovery (pp. 47-67). (RSC Drug Discovery Series; Vol. January 2016, No. 48). Abingdon, U. K.: Royal Society of Chemistry. https://doi.org/10.1039/9781782628484-00047

Epigenetics and disease. / Murrell, Adele.

Epigenetics for Drug Discovery. ed. / N. Carey. Abingdon, U. K. : Royal Society of Chemistry, 2015. p. 47-67 (RSC Drug Discovery Series; Vol. January 2016, No. 48).

Research output: Chapter in Book/Report/Conference proceedingChapter

Murrell, A 2015, Epigenetics and disease. in N Carey (ed.), Epigenetics for Drug Discovery. RSC Drug Discovery Series, no. 48, vol. January 2016, Royal Society of Chemistry, Abingdon, U. K., pp. 47-67. https://doi.org/10.1039/9781782628484-00047
Murrell A. Epigenetics and disease. In Carey N, editor, Epigenetics for Drug Discovery. Abingdon, U. K.: Royal Society of Chemistry. 2015. p. 47-67. (RSC Drug Discovery Series; 48). https://doi.org/10.1039/9781782628484-00047
Murrell, Adele. / Epigenetics and disease. Epigenetics for Drug Discovery. editor / N. Carey. Abingdon, U. K. : Royal Society of Chemistry, 2015. pp. 47-67 (RSC Drug Discovery Series; 48).
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