Publication
The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
| dc.contributor.author | Martins-Ferreira, Ricardo | |
| dc.contributor.author | Leal, Bárbara Guerra | |
| dc.contributor.author | Costa, Paulo Pinho | |
| dc.date.accessioned | 2023-02-28T15:48:22Z | |
| dc.date.available | 2023-02-28T15:48:22Z | |
| dc.date.issued | 2022-03-24 | |
| dc.description | This article is part of the Research Topic: Cellular and Molecular Targets In Epileptogenesis Focusing on Disease Prevention. | pt_PT |
| dc.description.abstract | Circulating cell-free DNA (cfDNA) are highly degraded DNA fragments shed into the bloodstream. Apoptosis is likely to be the main source of cfDNA due to the matching sizes of cfDNA and apoptotic DNA cleavage fragments. The study of cfDNA in liquid biopsies has served clinical research greatly. Genetic analysis of these circulating fragments has been used in non-invasive prenatal testing, detection of graft rejection in organ transplants, and cancer detection and monitoring. cfDNA sequencing is, however, of limited value in settings in which genetic association is not well-established, such as most neurodegenerative diseases.Recent studies have taken advantage of the cell-type specificity of DNA methylation to determine the tissue of origin, thus detecting ongoing cell death taking place in specific body compartments. Such an approach is yet to be developed in the context of epilepsy research. In this article, we review the different approaches that have been used to monitor cell-type specific death through DNA methylation analysis, and recent data detecting neuronal death in neuropathological settings. We focus on the potential relevance of these tools in focal epilepsies, like Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS), characterized by severe neuronal loss. We speculate on the potential relevance of cfDNA methylation screening for the detection of neuronal cell death in individuals with high risk of epileptogenesis that would benefit from early diagnosis and consequent early treatment. | pt_PT |
| dc.description.sponsorship | RM-F was funded by an FCT (Fundação para a Ciência e Tecnologia) fellowship (grant number SFRH/BD/137900/2018). Unit for Multidisciplinary Research in Biomedicine (UMIB) was funded by FCT Portugal (grant numbers UIDB/00215/2020 and UIDP/00215/2020), and Laboratory for Integrative and Translational Research in Population Health (ITR) (LA/P/0064/2020). | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Front Cell Neurosci. 2022 Mar 24;16:852151. doi: 10.3389/fncel.2022.852151. eCollection 2022. Review | pt_PT |
| dc.identifier.doi | 10.3389/fncel.2022.852151 | pt_PT |
| dc.identifier.issn | 1662-5102 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8543 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Frontiers Media | pt_PT |
| dc.relation | Epigenetic regulation of signalling pathways in MTLE-HS and its impact on epileptogenesis | |
| dc.relation | Unit for Multidisciplinary Research in Biomedicine | |
| dc.relation | Unit for Multidisciplinary Research in Biomedicine | |
| dc.relation.publisherversion | https://www.frontiersin.org/articles/10.3389/fncel.2022.852151/full | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt_PT |
| dc.subject | DNA Methylation | pt_PT |
| dc.subject | MTLE-HS | pt_PT |
| dc.subject | Biomarker | pt_PT |
| dc.subject | Cell-free DNA | pt_PT |
| dc.subject | Epilepsy | pt_PT |
| dc.subject | Epileptogenesis | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Epigenetic regulation of signalling pathways in MTLE-HS and its impact on epileptogenesis | |
| oaire.awardTitle | Unit for Multidisciplinary Research in Biomedicine | |
| oaire.awardTitle | Unit for Multidisciplinary Research in Biomedicine | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/POR_NORTE/SFRH%2FBD%2F137900%2F2018/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00215%2F2020/PT | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F00215%2F2020/PT | |
| oaire.citation.startPage | 852151 | pt_PT |
| oaire.citation.title | Frontiers in Cellular Neuroscience | pt_PT |
| oaire.citation.volume | 16 | pt_PT |
| oaire.fundingStream | POR_NORTE | |
| oaire.fundingStream | 6817 - DCRRNI ID | |
| oaire.fundingStream | 6817 - DCRRNI ID | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.embargofct | Acesso de acordo com política editorial da revista. | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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