The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker

Detalhes bibliográficos
Autor(a) principal: Martins-Ferreira, Ricardo
Data de Publicação: 2022
Outros Autores: Leal, Bárbara Guerra, Costa, Paulo Pinho
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/8543
Resumo: This article is part of the Research Topic: Cellular and Molecular Targets In Epileptogenesis Focusing on Disease Prevention.
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spelling The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy BiomarkerDNA MethylationMTLE-HSBiomarkerCell-free DNAEpilepsyEpileptogenesisDoenças GenéticasThis article is part of the Research Topic: Cellular and Molecular Targets In Epileptogenesis Focusing on Disease Prevention.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.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).Frontiers MediaRepositório Científico do Instituto Nacional de SaúdeMartins-Ferreira, RicardoLeal, Bárbara GuerraCosta, Paulo Pinho2023-02-28T15:48:22Z2022-03-242022-03-24T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8543engFront Cell Neurosci. 2022 Mar 24;16:852151. doi: 10.3389/fncel.2022.852151. eCollection 2022. Review1662-510210.3389/fncel.2022.852151info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:42:37Zoai:repositorio.insa.pt:10400.18/8543Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:43:10.983290Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
title The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
spellingShingle The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
Martins-Ferreira, Ricardo
DNA Methylation
MTLE-HS
Biomarker
Cell-free DNA
Epilepsy
Epileptogenesis
Doenças Genéticas
title_short The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
title_full The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
title_fullStr The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
title_full_unstemmed The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
title_sort The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker
author Martins-Ferreira, Ricardo
author_facet Martins-Ferreira, Ricardo
Leal, Bárbara Guerra
Costa, Paulo Pinho
author_role author
author2 Leal, Bárbara Guerra
Costa, Paulo Pinho
author2_role author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Martins-Ferreira, Ricardo
Leal, Bárbara Guerra
Costa, Paulo Pinho
dc.subject.por.fl_str_mv DNA Methylation
MTLE-HS
Biomarker
Cell-free DNA
Epilepsy
Epileptogenesis
Doenças Genéticas
topic DNA Methylation
MTLE-HS
Biomarker
Cell-free DNA
Epilepsy
Epileptogenesis
Doenças Genéticas
description This article is part of the Research Topic: Cellular and Molecular Targets In Epileptogenesis Focusing on Disease Prevention.
publishDate 2022
dc.date.none.fl_str_mv 2022-03-24
2022-03-24T00:00:00Z
2023-02-28T15:48:22Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8543
url http://hdl.handle.net/10400.18/8543
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Front Cell Neurosci. 2022 Mar 24;16:852151. doi: 10.3389/fncel.2022.852151. eCollection 2022. Review
1662-5102
10.3389/fncel.2022.852151
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Frontiers Media
publisher.none.fl_str_mv Frontiers Media
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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