TY - CHAP
T1 - Epigenetics and disease
AU - Murrell, Adele
PY - 2015/11
Y1 - 2015/11
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84952803407&partnerID=8YFLogxK
UR - http://dx.doi.org/10.1039/9781782628484-00047
U2 - 10.1039/9781782628484-00047
DO - 10.1039/9781782628484-00047
M3 - Chapter or section
AN - SCOPUS:84952803407
SN - 9781849738828
T3 - RSC Drug Discovery Series
SP - 47
EP - 67
BT - Epigenetics for Drug Discovery
A2 - Carey, N.
PB - Royal Society of Chemistry
CY - Abingdon, U. K.
ER -