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Title: | Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines |
Author: | 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- |
Keywords: | Epigenètica Malaltia d'Alzheimer Malalties neurodegeneratives Epigenetics Alzheimer's disease Neurodegenerative Diseases |
Issue Date: | 2-May-2024 |
Publisher: | MDPI |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3390/ijms25105445 |
It is part of: | International Journal of Molecular Sciences, 2024, vol. 25, num.10 |
URI: | https://hdl.handle.net/2445/222870 |
Related resource: | https://doi.org/10.3390/ijms25105445 |
ISSN: | 1661-6596 |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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