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DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration

2025-01Journal article Open access
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorCamacho, Pedro
dc.contributor.authorRibeiro, Edna
dc.contributor.authorPereira, Bruno
dc.contributor.authorNascimento, João
dc.contributor.authorRosa, Paulo Caldeira
dc.contributor.authorHenriques, José
dc.contributor.authorBarrão, Sandra
dc.contributor.authorSadio, Silvia
dc.contributor.authorQuendera, Bruno
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorGinete, Catarina
dc.contributor.authorNeves Delgadinho, Mariana Isabel
dc.contributor.authorHonrado Ginete, Ana Catarina
dc.contributor.authorSilva, Carina
dc.contributor.authorBrito, Miguel
dc.date.accessioned2025-02-19T15:30:16Z
dc.date.available2025-02-19T15:30:16Z
dc.date.issued2025-01
dc.description.abstractBackground/Objectives: Age-related macular degeneration (AMD) is a global cause of vision loss, with limited therapeutic options highlighting the need for effective biomarkers. This study aimed to characterize plasma DNA methyltransferase expression (DNMT1, DNMT3A, and DNMT3B) in AMD patients and explore divergent expression patterns across different stages of AMD. Methods: Thirty-eight AMD patients were prospectively enrolled and stratified by disease severity: eAMD, iAMD, nAMD, and aAMD. Comprehensive ophthalmological assessments included best-corrected visual acuity, digital color fundus photographs, and Spectral Domain Optical Coherence Tomography. Peripheral blood samples were collected for RNA extraction and qRT-PCR to access epigenetic effectors’ transcriptional expression, namely DNMT1, DNMT3A, and DNMT3B genes. The collected data were analyzed using IBM SPSS 29. Results: DNMT1 expression was significantly downregulated in late AMD (−0.186 ± 0.341) compared to early/intermediate AMD (0.026 ± 0.246). Within late AMD, aAMD exhibited a marked downregulation of DNMT1 (−0.375 ± 0.047) compared to nAMD (0.129 ± 0.392). DNMT3A and DNMT3B showed similar divergent expression patterns, correlating with disease stage. Conclusions: This study identified stage-specific transcriptional differences in DNMT expression, emphasizing its potential as a biomarker for AMD progression and a target for future research into personalized therapeutic strategies.eng
dc.description.sponsorshipThis work was also partially funded by FCT/MCTES UIDB/05608/2020, and UIDP/05608/2020, IDI&CA grant IPL/2022/MetAllAMD_ESTeSL by H&TRC—Health & Technology Research Centre, ESTeSL—Escola Superior de Tecnologia da Saúde, and by the Retina Institute of Lisbon (IRL).
dc.identifier.citationCamacho P, Ribeiro E, Pereira B, Delgadinho M, Ginete C, Silva C, Brito M, et al. DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration. J Clin Psychol. 2025;14(2):559.
dc.identifier.doi10.3390/jcm14020559
dc.identifier.issn2077-0383
dc.identifier.urihttp://hdl.handle.net/10400.21/21535
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relationIPL/2022/MetAllAMD_ESTeSL
dc.relation.hasversionhttps://www.mdpi.com/2077-0383/14/2/559
dc.relation.ispartofJournal of Clinical Medicine
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectOphthalmology
dc.subjectAge-related macular degeneration
dc.subjectEpigenetics
dc.subjectGeographic atrophy
dc.subjectChoroidal neovascularization
dc.subjectSD-OCT
dc.subjectFCT_UIDB/05608/2020
dc.subjectFCT_UIDP/05608/2020
dc.subjectIPL/2022/MetAllAMD_ESTeSL
dc.titleDNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degenerationeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue2
oaire.citation.startPage559
oaire.citation.titleJournal of Clinical Medicine
oaire.citation.volume14
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameCamacho
person.familyNameRibeiro
person.familyNamePereira
person.familyNameNeves Delgadinho
person.familyNameHonrado Ginete
person.familyNameSilva
person.familyNameBrito
person.givenNamePedro
person.givenNameEdna
person.givenNameBruno
person.givenNameMariana Isabel
person.givenNameAna Catarina
person.givenNameCarina
person.givenNameMiguel
person.identifierCAJ-5082-2022
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person.identifier.ciencia-idC414-CDF2-D35A
person.identifier.ciencia-id231E-02E3-D9A9
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person.identifier.ciencia-id2411-5936-0820
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0002-2986-5652
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person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0003-1021-7935
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id55258764900
person.identifier.scopus-author-id35224551000
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