Publication
DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration
| Summary: | Background/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. |
|---|---|
| Main Authors: | Camacho, Pedro |
| Other Authors: | Ribeiro, Edna; Pereira, Bruno; Nascimento, João; Rosa, Paulo Caldeira; Henriques, José; Barrão, Sandra; Sadio, Silvia; Quendera, Bruno; Delgadinho, Mariana; Ginete, Catarina; Neves Delgadinho, Mariana Isabel; Honrado Ginete, Ana Catarina; Silva, Carina; Brito, Miguel |
| Subject: | Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| Year: | 2025 |
| Country: | Portugal |
| Document type: | article |
| Access type: | open access |
| Associated institution: | Instituto Politécnico de Lisboa |
| Language: | English |
| Origin: | Repositório Científico do Instituto Politécnico de Lisboa |
| _version_ | 1866887670073917440 |
|---|---|
| author | Camacho, Pedro |
| author2 | Ribeiro, Edna Pereira, Bruno Nascimento, João Rosa, Paulo Caldeira Henriques, José Barrão, Sandra Sadio, Silvia Quendera, Bruno Delgadinho, Mariana Ginete, Catarina Neves Delgadinho, Mariana Isabel Honrado Ginete, Ana Catarina Silva, Carina Brito, Miguel |
| author2_role | author author author author author author author author author author author author author author |
| author_facet | Camacho, Pedro Ribeiro, Edna Pereira, Bruno Nascimento, João Rosa, Paulo Caldeira Henriques, José Barrão, Sandra Sadio, Silvia Quendera, Bruno Delgadinho, Mariana Ginete, Catarina Neves Delgadinho, Mariana Isabel Honrado Ginete, Ana Catarina Silva, Carina Brito, Miguel |
| author_role | author |
| contributor_name_str_mv | RCIPL |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Camacho, Pedro\",\"Person.identifier.orcid\":\"0000-0002-2986-5652\"},{\"Person.name\":\"Ribeiro, Edna\",\"Person.identifier.orcid\":\"0000-0003-1316-7750\"},{\"Person.name\":\"Pereira, Bruno\",\"Person.identifier.orcid\":\"0000-0001-9269-8335\"},{\"Person.name\":\"Nascimento, João\"},{\"Person.name\":\"Rosa, Paulo Caldeira\"},{\"Person.name\":\"Henriques, José\"},{\"Person.name\":\"Barrão, Sandra\"},{\"Person.name\":\"Sadio, Silvia\"},{\"Person.name\":\"Quendera, Bruno\"},{\"Person.name\":\"Delgadinho, Mariana\"},{\"Person.name\":\"Ginete, Catarina\"},{\"Person.name\":\"Neves Delgadinho, Mariana Isabel\",\"Person.identifier.orcid\":\"0000-0003-0586-9154\"},{\"Person.name\":\"Honrado Ginete, Ana Catarina\",\"Person.identifier.orcid\":\"0000-0002-2334-782X\"},{\"Person.name\":\"Silva, Carina\",\"Person.identifier.orcid\":\"0000-0003-1021-7935\"},{\"Person.name\":\"Brito, Miguel\",\"Person.identifier.orcid\":\"0000-0001-6394-658X\"}] |
| datacite.contributors.contributor.contributorName.fl_str_mv | RCIPL |
| datacite.creators.creator.creatorName.fl_str_mv | Camacho, Pedro Ribeiro, Edna Pereira, Bruno Nascimento, João Rosa, Paulo Caldeira Henriques, José Barrão, Sandra Sadio, Silvia Quendera, Bruno Delgadinho, Mariana Ginete, Catarina Neves Delgadinho, Mariana Isabel Honrado Ginete, Ana Catarina Silva, Carina Brito, Miguel |
| datacite.date.Accepted.fl_str_mv | 2025-01-01T00:00:00Z |
| datacite.date.available.fl_str_mv | 2025-02-19T15:30:16Z |
| datacite.date.embargoed.fl_str_mv | 2025-02-19T15:30:16Z |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| datacite.subjects.subject.fl_str_mv | Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| datacite.titles.title.fl_str_mv | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| dc.contributor.none.fl_str_mv | RCIPL |
| dc.creator.none.fl_str_mv | Camacho, Pedro Ribeiro, Edna Pereira, Bruno Nascimento, João Rosa, Paulo Caldeira Henriques, José Barrão, Sandra Sadio, Silvia Quendera, Bruno Delgadinho, Mariana Ginete, Catarina Neves Delgadinho, Mariana Isabel Honrado Ginete, Ana Catarina Silva, Carina Brito, Miguel |
| dc.date.Accepted.fl_str_mv | 2025-01-01T00:00:00Z |
| dc.date.available.fl_str_mv | 2025-02-19T15:30:16Z |
| dc.date.embargoed.fl_str_mv | 2025-02-19T15:30:16Z |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | http://hdl.handle.net/10400.21/21535 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | MDPI |
| dc.rights.cclincense.fl_str_mv | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_abf2 |
| dc.subject.none.fl_str_mv | Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| dc.title.fl_str_mv | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | Background/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. |
| dirty | 0 |
| eu_rights_str_mv | openAccess |
| format | article |
| fulltext.url.fl_str_mv | https://repositorio.ipl.pt/bitstreams/d00261ea-88c3-40ba-ad31-15183828818c/download |
| id | ripl_834efa54b24dd0d705eec43c8a74dfbf |
| identifier.url.fl_str_mv | http://hdl.handle.net/10400.21/21535 |
| instacron_str | ipl |
| institution | Instituto Politécnico de Lisboa |
| instname_str | Instituto Politécnico de Lisboa |
| language | eng |
| network_acronym_str | ripl |
| network_name_str | Repositório Científico do Instituto Politécnico de Lisboa |
| oai_identifier_str | oai:repositorio.ipl.pt:10400.21/21535 |
| organization_str_mv | urn:organizationAcronym:ipl |
| person_str_mv | Camacho, Pedro Camacho, Pedro https://www.ciencia-id.pt/271F-B4E1-014E 271F-B4E1-014E http://orcid.org/0000-0002-2986-5652 0000-0002-2986-5652 Ribeiro, Edna Ribeiro, Edna https://www.ciencia-id.pt/C414-CDF2-D35A C414-CDF2-D35A http://orcid.org/0000-0003-1316-7750 0000-0003-1316-7750 Pereira, Bruno Pereira, Bruno http://orcid.org/0000-0001-9269-8335 0000-0001-9269-8335 Nascimento, João Rosa, Paulo Caldeira Henriques, José Barrão, Sandra Sadio, Silvia Quendera, Bruno Delgadinho, Mariana Ginete, Catarina Neves Delgadinho, Mariana Isabel Neves Delgadinho, Mariana Isabel https://www.ciencia-id.pt/231E-02E3-D9A9 231E-02E3-D9A9 http://orcid.org/0000-0003-0586-9154 0000-0003-0586-9154 Honrado Ginete, Ana Catarina Honrado Ginete, Ana Catarina https://www.ciencia-id.pt/8715-F62E-1E0F 8715-F62E-1E0F http://orcid.org/0000-0002-2334-782X 0000-0002-2334-782X Silva, Carina Silva, Carina https://www.ciencia-id.pt/2411-5936-0820 2411-5936-0820 http://orcid.org/0000-0003-1021-7935 0000-0003-1021-7935 Brito, Miguel Brito, Miguel https://www.ciencia-id.pt/231F-F341-7E93 231F-F341-7E93 http://orcid.org/0000-0001-6394-658X 0000-0001-6394-658X |
| publishDate | 2025 |
| publisher.none.fl_str_mv | MDPI |
| reponame_str | Repositório Científico do Instituto Politécnico de Lisboa |
| repository_id_str | urn:repositoryAcronym:ripl |
| service_str_mv | urn:repositoryAcronym:ripl |
| spelling | engMDPIengBackground/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.application/pdfengDNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degenerationPersonalCamacho, PedroDSpacehttp://dspace.org/items/c41e9c52-157e-4375-8005-b609cfc374e7DSpacehttp://dspace.org/items/c41e9c52-157e-4375-8005-b609cfc374e7CamachoPedroCiência IDhttps://www.ciencia-id.pt271F-B4E1-014EORCIDhttp://orcid.org0000-0002-2986-5652PersonalRibeiro, EdnaDSpacehttp://dspace.org/items/a571bf34-bcda-49ca-b5cb-4cdecbb3d9c7DSpacehttp://dspace.org/items/a571bf34-bcda-49ca-b5cb-4cdecbb3d9c7RibeiroEdnaCiência IDhttps://www.ciencia-id.ptC414-CDF2-D35AORCIDhttp://orcid.org0000-0003-1316-7750PersonalPereira, BrunoDSpacehttp://dspace.org/items/2a6ea9cf-68c0-405c-a961-26a3eeb59136DSpacehttp://dspace.org/items/2a6ea9cf-68c0-405c-a961-26a3eeb59136PereiraBrunoORCIDhttp://orcid.org0000-0001-9269-8335Nascimento, JoãoRosa, Paulo CaldeiraHenriques, JoséBarrão, SandraSadio, SilviaQuendera, BrunoDelgadinho, MarianaGinete, CatarinaPersonalNeves Delgadinho, Mariana IsabelDSpacehttp://dspace.org/items/ca55aab6-9a58-4f79-ab79-20513414099fDSpacehttp://dspace.org/items/ca55aab6-9a58-4f79-ab79-20513414099fNeves DelgadinhoMariana IsabelCiência IDhttps://www.ciencia-id.pt231E-02E3-D9A9ORCIDhttp://orcid.org0000-0003-0586-9154PersonalHonrado Ginete, Ana CatarinaDSpacehttp://dspace.org/items/dfb2fbba-17ff-42fb-905a-fcfc8f326e1cDSpacehttp://dspace.org/items/dfb2fbba-17ff-42fb-905a-fcfc8f326e1cHonrado GineteAna CatarinaCiência IDhttps://www.ciencia-id.pt8715-F62E-1E0FORCIDhttp://orcid.org0000-0002-2334-782XPersonalSilva, CarinaDSpacehttp://dspace.org/items/81a5cd80-1982-43ba-bde5-4c43ae0e5234DSpacehttp://dspace.org/items/81a5cd80-1982-43ba-bde5-4c43ae0e5234SilvaCarinaCiência IDhttps://www.ciencia-id.pt2411-5936-0820ORCIDhttp://orcid.org0000-0003-1021-7935Scopus Author IDhttps://www.scopus.com55258764900PersonalBrito, MiguelDSpacehttp://dspace.org/items/4252d8e0-800c-4d67-8b13-0b711d860669DSpacehttp://dspace.org/items/4252d8e0-800c-4d67-8b13-0b711d860669BritoMiguelCiência IDhttps://www.ciencia-id.pt231F-F341-7E93ORCIDhttp://orcid.org0000-0001-6394-658XResearcher IDhttps://www.researcherid.comA-7970-2016Scopus Author IDhttps://www.scopus.com35224551000Scopus Author IDhttps://www.scopus.com57200288349HostingInstitutionOrganizationalRCIPLe-mailmailto:rcaap@sp.ipl.ptrcaap@sp.ipl.ptISSNIsPartOf2077-0383DOIIsPartOf10.3390/jcm140205592025-02-19T15:30:16Z2025-012025-01-01T00:00:00ZHandlehttp://hdl.handle.net/10400.21/21535http://purl.org/coar/access_right/c_abf2open accessOphthalmologyAge-related macular degenerationEpigeneticsGeographic atrophyChoroidal neovascularizationSD-OCTFCT_UIDB/05608/2020FCT_UIDP/05608/2020IPL/2022/MetAllAMD_ESTeSL2006023 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal article2025-01http://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2application/pdffulltexthttps://repositorio.ipl.pt/bitstreams/d00261ea-88c3-40ba-ad31-15183828818c/downloadJournal of Clinical Medicine142559 |
| spellingShingle | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration Camacho, Pedro Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| status | SINGLETON |
| subject.fl_str_mv | Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| title | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| title_full | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| title_fullStr | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| title_full_unstemmed | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| title_short | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| title_sort | DNA methyltransferase expression (DNMT1, DNMT3a, and DNMT3b) as a potential biomarker in age-related macular degeneration |
| topic | Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| topic_facet | Ophthalmology Age-related macular degeneration Epigenetics Geographic atrophy Choroidal neovascularization SD-OCT FCT_UIDB/05608/2020 FCT_UIDP/05608/2020 IPL/2022/MetAllAMD_ESTeSL |
| url | http://hdl.handle.net/10400.21/21535 |
| visible | 1 |