Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies

dc.contributor.authorReho, Paolo
dc.contributor.authorSaez-Atienzar, Sara
dc.contributor.authorRuffo, Paola
dc.contributor.authorSolaiman, Sultana
dc.contributor.authorShah, Zalak
dc.contributor.authorChia, Ruth
dc.contributor.authorKaivola, Karri
dc.contributor.authorTraynor, Bryan J.
dc.contributor.authorTilley, Bension S.
dc.contributor.authorGentleman, Steve M.
dc.contributor.authorHodges, Angela K.
dc.contributor.authorAarsland, Dag
dc.contributor.authorMonuki, Edwin S.
dc.contributor.authorNewell, Kathy L.
dc.contributor.authorWoltjer, Randy
dc.contributor.authorAlbert, Marilyn S.
dc.contributor.authorDawson, Ted M.
dc.contributor.authorRosenthal, Liana S.
dc.contributor.authorTroncoso, Juan C.
dc.contributor.authorPletnikova, Olga
dc.contributor.authorSerrano, Geidy E.
dc.contributor.authorBeach, Thomas G.
dc.contributor.authorEaswaran, Hariharan P.
dc.contributor.authorScholz, Sonja W.
dc.contributor.departmentPathology and Laboratory Medicine, School of Medicine
dc.date.accessioned2024-05-23T13:03:25Z
dc.date.available2024-05-23T13:03:25Z
dc.date.issued2024-01-05
dc.description.abstractDementia with Lewy bodies (DLB) is a common form of dementia in the elderly population. We performed genome-wide DNA methylation mapping of cerebellar tissue from pathologically confirmed DLB cases and controls to study the epigenetic profile of this understudied disease. After quality control filtering, 728,197 CpG-sites in 278 cases and 172 controls were available for the analysis. We undertook an epigenome-wide association study, which found a differential methylation signature in DLB cases. Our analysis identified seven differentially methylated probes and three regions associated with DLB. The most significant CpGs were located in ARSB (cg16086807), LINC00173 (cg18800161), and MGRN1 (cg16250093). Functional enrichment evaluations found widespread epigenetic dysregulation in genes associated with neuron-to-neuron synapse, postsynaptic specialization, postsynaptic density, and CTCF-mediated synaptic plasticity. In conclusion, our study highlights the potential importance of epigenetic alterations in the pathogenesis of DLB and provides insights into the modified genes, regions and pathways that may guide therapeutic developments.
dc.eprint.versionFinal published version
dc.identifier.citationReho P, Saez-Atienzar S, Ruffo P, et al. Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies. Commun Biol. 2024;7(1):35. Published 2024 Jan 5. doi:10.1038/s42003-023-05725-x
dc.identifier.urihttps://hdl.handle.net/1805/40978
dc.language.isoen_US
dc.publisherSpringer Nature
dc.relation.isversionof10.1038/s42003-023-05725-x
dc.relation.journalCommunications Biology
dc.rightsAttribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourcePMC
dc.subjectDNA methylation
dc.subjectDementia
dc.subjectEpigenome
dc.subjectLewy body disease
dc.titleDifferential methylation analysis in neuropathologically confirmed dementia with Lewy bodies
dc.typeArticle
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