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dc.contributor.authorSerra-Juhé, C.en
dc.contributor.authorCuscó, I.en
dc.contributor.authorHoms, A.en
dc.contributor.authorFlores, R.en
dc.contributor.authorTorán, N.en
dc.contributor.authorPérez-Jurado, L.en
dc.identifier.citationEpigenetics, 2015; 10(2):167-177en
dc.description.abstractCongenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.en
dc.description.statementofresponsibilityClara Serra-Juhé, Ivon Cuscó, Aïda Homs, Raquel Flores, Núria Torán and Luis A Pérez-Juradoen
dc.publisherTaylor & Francisen
dc.rights© 2015 The Author(s). Published with license by Taylor & Francis Group, LLC© Clara Serra-Juhé, Ivon Cuscó, Aïda Homs, Raquel Flores, Núria Torán, and Luis A Pérez-Jurado. This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. The moral rights of the named author(s) have been asserted.en
dc.subjectCongenital heart disease; Down syndrome; DNA methylation; epimutation; heart malformationen
dc.titleDNA methylation abnormalities in congenital heart diseaseen
dc.typeJournal articleen
pubs.library.collectionGenetics publicationsen
Appears in Collections:Genetics publications

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