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Circulating cell-free DNA methylation mirrors alterations in cerebral patterns in epilepsy

2022-12-28Journal article Open access
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dc.contributor.authorMartins-Ferreira, Ricardo
dc.contributor.authorLeal, Bárbara
dc.contributor.authorChaves, João
dc.contributor.authorCiudad, Laura
dc.contributor.authorSamões, Raquel
dc.contributor.authorMartins da Silva, António
dc.contributor.authorPinho Costa, Paulo
dc.contributor.authorBallestar, Esteban
dc.date.accessioned2023-03-08T14:34:53Z
dc.date.available2023-03-08T14:34:53Z
dc.date.issued2022-12-28
dc.description.abstractBackground: DNA methylation profiling of circulating cell-free DNA (cfDNA) has rapidly become a promising strategy for biomarker identification and development. The cell-type-specific nature of DNA methylation patterns and the direct relationship between cfDNA and apoptosis can potentially be used non-invasively to predict local alterations. In addition, direct detection of altered DNA methylation patterns performs well as a biomarker. In a previous study, we demonstrated marked DNA methylation alterations in brain tissue from patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Results: We performed DNA methylation profiling in cfDNA isolated from the serum of MTLE patients and healthy controls using BeadChip arrays followed by systematic bioinformatic analysis including deconvolution analysis and integration with DNase accessibility data sets. Differential cfDNA methylation analysis showed an overrepresentation of gene ontology terms and transcription factors related to central nervous system function and regulation. Deconvolution analysis of the DNA methylation data sets ruled out the possibility that the observed differences were due to changes in the proportional contribution of cortical neurons in cfDNA. Moreover, we found no overrepresentation of neuron- or glia-specific patterns in the described cfDNA methylation patterns. However, the MTLE-HS cfDNA methylation patterns featured a significant overrepresentation of the epileptic DNA methylation alterations previously observed in the hippocampus. Conclusions: Our results support the use of cfDNA methylation profiling as a rational approach to seeking non-invasive and reproducible epilepsy biomarkers.pt_PT
dc.description.sponsorshipThis study has been supported by R+D+i project PID2020-117212RB-I00 funded by MCIN/AEI/10.13039/501100011033. This work has also been par‑ tially supported by a BICE Tecnifar Grant. RM-F is funded by an FCT (Fundação para a Ciência e Tecnologia) fellowship (SFRH/BD/137900/2018). UMIB is funded by FCT Portugal (UIDB/00215/2020 and UIDP/00215/2020) and ITR (LA/P/006/2020).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Epigenetics. 2022 Dec 28;14(1):188. doi: 10.1186/s13148-022-01416-2.pt_PT
dc.identifier.doi10.1186/s13148-022-01416-2pt_PT
dc.identifier.issn1868-7083
dc.identifier.urihttp://hdl.handle.net/10400.18/8548
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMCpt_PT
dc.relationEpigenetic regulation of signalling pathways in MTLE-HS and its impact on epileptogenesis
dc.relationUnit for Multidisciplinary Research in Biomedicine
dc.relationUnit for Multidisciplinary Research in Biomedicine
dc.relation.publisherversionhttps://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-022-01416-2pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCell-free DNApt_PT
dc.subjectBiomarkerpt_PT
dc.subjectDNA Methylationpt_PT
dc.subjectEpilepsypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCirculating cell-free DNA methylation mirrors alterations in cerebral patterns in epilepsypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleEpigenetic regulation of signalling pathways in MTLE-HS and its impact on epileptogenesis
oaire.awardTitleUnit for Multidisciplinary Research in Biomedicine
oaire.awardTitleUnit for Multidisciplinary Research in Biomedicine
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/POR_NORTE/SFRH%2FBD%2F137900%2F2018/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00215%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F00215%2F2020/PT
oaire.citation.issue1pt_PT
oaire.citation.startPage188pt_PT
oaire.citation.titleClinical Epigeneticspt_PT
oaire.citation.volume14pt_PT
oaire.fundingStreamPOR_NORTE
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicatione75fa6c9-c027-4acb-9c30-9ef23fe9eb5d
relation.isProjectOfPublication5e782b2f-511f-446a-9c30-de1ea4f326df
relation.isProjectOfPublication3b59bbc6-7ac7-4600-b3e8-58aab73d3816
relation.isProjectOfPublication.latestForDiscovery5e782b2f-511f-446a-9c30-de1ea4f326df

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