Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines

Epigenetics, a potential underlying pathogenic mechanism of neurodegenerative diseases, has been in the scope of several studies performed so far. However, there is a gap in regard to analyzing different forms of early-onset dementia and the use of Lymphoblastoid cell lines (LCLs). We performed a ge...

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Autores: Ramos Campoy, Oscar, Comas Albertí, Aina, Hervas, David, Borrego Écija, Sergi, Bosch Capdevila, Beatriz, Sandoval, Juan, Fort Aznar, Laura, Moreno Izco, Fermín, Fernández Villullas, Guadalupe, Molina Porcel, Laura, Balasa, Mircea, Lladó Plarrumaní, Albert, Sánchez del Valle Díaz, Raquel, Antonell Boixader, Anna, 1978-
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Recursos:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/222870
Acesso em linha:https://hdl.handle.net/2445/222870
Access Level:acceso abierto
Palavra-chave:Epigenètica
Malaltia d'Alzheimer
Malalties neurodegeneratives
Epigenetics
Alzheimer's disease
Neurodegenerative Diseases
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spelling Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell LinesRamos Campoy, OscarComas Albertí, AinaHervas, DavidBorrego Écija, SergiBosch Capdevila, BeatrizSandoval, JuanFort Aznar, LauraMoreno Izco, FermínFernández Villullas, GuadalupeMolina Porcel, LauraBalasa, MirceaLladó Plarrumaní, AlbertSánchez del Valle Díaz, RaquelAntonell Boixader, Anna, 1978-EpigenèticaMalaltia d'AlzheimerMalalties neurodegenerativesEpigeneticsAlzheimer's diseaseNeurodegenerative DiseasesEpigenetics, a potential underlying pathogenic mechanism of neurodegenerative diseases, has been in the scope of several studies performed so far. However, there is a gap in regard to analyzing different forms of early-onset dementia and the use of Lymphoblastoid cell lines (LCLs). We performed a genome-wide DNA methylation analysis on sixty-four samples (from the prefrontal cortex and LCLs) including those taken from patients with early-onset forms of Alzheimer’s disease (AD) and frontotemporal dementia (FTD) and healthy controls. A beta regression model and adjusted p-values were used to obtain differentially methylated positions (DMPs) via pairwise comparisons. A correlation analysis of DMP levels with Clariom D array gene expression data from the same cohort was also performed. The results showed hypermethylation as the most frequent finding in both tissues studied in the patient groups. Biological significance analysis revealed common pathways altered in AD and FTD patients, affecting neuron development, metabolism, signal transduction, and immune system pathways. These alterations were also found in LCL samples, suggesting the epigenetic changes might not be limited to the central nervous system. In the brain, CpG methylation presented an inverse correlation with gene expression, while in LCLs, we observed mainly a positive correlation. This study enhances our understanding of the biological pathways that are associated with neurodegeneration, describes differential methylation patterns, and suggests LCLs are a potential cell model for studying neurodegenerative diseases in earlier clinical phases than brain tissue.MDPI2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/222870Articles publicats en revistes (Medicina)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.3390/ijms25105445International Journal of Molecular Sciences, 2024, vol. 25, num.10https://doi.org/10.3390/ijms25105445cc-by (c) Ramos-Campoy, O. et al., 2024http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2228702026-05-27T06:46:51Z
dc.title.none.fl_str_mv Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
title Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
spellingShingle Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
Ramos Campoy, Oscar
Epigenètica
Malaltia d'Alzheimer
Malalties neurodegeneratives
Epigenetics
Alzheimer's disease
Neurodegenerative Diseases
title_short Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
title_full Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
title_fullStr Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
title_full_unstemmed Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
title_sort Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines
dc.creator.none.fl_str_mv Ramos Campoy, Oscar
Comas Albertí, Aina
Hervas, David
Borrego Écija, Sergi
Bosch Capdevila, Beatriz
Sandoval, Juan
Fort Aznar, Laura
Moreno Izco, Fermín
Fernández Villullas, Guadalupe
Molina Porcel, Laura
Balasa, Mircea
Lladó Plarrumaní, Albert
Sánchez del Valle Díaz, Raquel
Antonell Boixader, Anna, 1978-
author Ramos Campoy, Oscar
author_facet Ramos Campoy, Oscar
Comas Albertí, Aina
Hervas, David
Borrego Écija, Sergi
Bosch Capdevila, Beatriz
Sandoval, Juan
Fort Aznar, Laura
Moreno Izco, Fermín
Fernández Villullas, Guadalupe
Molina Porcel, Laura
Balasa, Mircea
Lladó Plarrumaní, Albert
Sánchez del Valle Díaz, Raquel
Antonell Boixader, Anna, 1978-
author_role author
author2 Comas Albertí, Aina
Hervas, David
Borrego Écija, Sergi
Bosch Capdevila, Beatriz
Sandoval, Juan
Fort Aznar, Laura
Moreno Izco, Fermín
Fernández Villullas, Guadalupe
Molina Porcel, Laura
Balasa, Mircea
Lladó Plarrumaní, Albert
Sánchez del Valle Díaz, Raquel
Antonell Boixader, Anna, 1978-
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Epigenètica
Malaltia d'Alzheimer
Malalties neurodegeneratives
Epigenetics
Alzheimer's disease
Neurodegenerative Diseases
topic Epigenètica
Malaltia d'Alzheimer
Malalties neurodegeneratives
Epigenetics
Alzheimer's disease
Neurodegenerative Diseases
description Epigenetics, a potential underlying pathogenic mechanism of neurodegenerative diseases, has been in the scope of several studies performed so far. However, there is a gap in regard to analyzing different forms of early-onset dementia and the use of Lymphoblastoid cell lines (LCLs). We performed a genome-wide DNA methylation analysis on sixty-four samples (from the prefrontal cortex and LCLs) including those taken from patients with early-onset forms of Alzheimer’s disease (AD) and frontotemporal dementia (FTD) and healthy controls. A beta regression model and adjusted p-values were used to obtain differentially methylated positions (DMPs) via pairwise comparisons. A correlation analysis of DMP levels with Clariom D array gene expression data from the same cohort was also performed. The results showed hypermethylation as the most frequent finding in both tissues studied in the patient groups. Biological significance analysis revealed common pathways altered in AD and FTD patients, affecting neuron development, metabolism, signal transduction, and immune system pathways. These alterations were also found in LCL samples, suggesting the epigenetic changes might not be limited to the central nervous system. In the brain, CpG methylation presented an inverse correlation with gene expression, while in LCLs, we observed mainly a positive correlation. This study enhances our understanding of the biological pathways that are associated with neurodegeneration, describes differential methylation patterns, and suggests LCLs are a potential cell model for studying neurodegenerative diseases in earlier clinical phases than brain tissue.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/222870
url https://hdl.handle.net/2445/222870
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3390/ijms25105445
International Journal of Molecular Sciences, 2024, vol. 25, num.10
https://doi.org/10.3390/ijms25105445
dc.rights.none.fl_str_mv cc-by (c) Ramos-Campoy, O. et al., 2024
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Ramos-Campoy, O. et al., 2024
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812455

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