Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/105249
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dc.contributor.authorMartins, Sara-
dc.contributor.authorSantos, Maria João-
dc.contributor.authorTeixeira, Márcia-
dc.contributor.authorDiogo, Luisa-
dc.contributor.authorMacário, Maria do Carmo-
dc.contributor.authorPedro Marques, João-
dc.contributor.authorFonseca, Pedro-
dc.contributor.authorGrazina, Manuela-
dc.date.accessioned2023-02-10T13:54:56Z-
dc.date.available2023-02-10T13:54:56Z-
dc.date.issued2023-01-27-
dc.identifier.issn15677249pt
dc.identifier.urihttps://hdl.handle.net/10316/105249-
dc.description.abstractLeber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95%) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics decision. It relies on real-time PCR with High-Resolution Melting (HRM) analysis. Variant classification is made using HRM Software and quality controls. Ninety-four samples were analyzed. All samples were correctly assigned: 58 wild-type, 35 positive for m.11778G>A, 6 positive for m.14484T>C, 2 positive for m.3460G>A. Results presented sensitivity=1, specificity=1, Positive Predictive Value=1 and Negative Predictive Value=1. A new Real-Time PCR/HRM screening method cost-efficient, simple, robust and quick, detecting LHON's top-3 is described.pt
dc.description.sponsorshipThis work was financed by the European Regional Development Fund (ERDF), through the Centro 2020 Regional Operational Programme under project CENTRO-01-0145-FEDER-000012-N2323 (HealthyAging2020) and through the COMPETE 2020 – Operational Programme for Competitiveness and Internationalisation and Portuguese national funds via FCT – Fundação para a Ciência e a Tecnologia, under projects POCI-01-0145-FEDER-007440 (Strategic Project), UID/NEU/04539/2019, Pest-C/SAU/LA0001/2013e2014 and doctoral grant SFRH/BD/86622/2012. The LBioMiT was financed by Santhera Pharmaceuticals, allowing the implementation of the project “Providing free of charge complete genetic tests to Portuguese patients with a clinical and instrumental diagnosis of Optic Nerve Atrophy” (PI Professor Manuela Grazina).pt
dc.language.isoengpt
dc.publisherElsevierpt
dc.relationCENTRO-01-0145-FEDER-000012-N2323 (HealthyAging2020)pt
dc.relationinfo:eu-repo/grantAgreement/POCI‐01‐0145‐FEDER-007440/PTpt
dc.relationinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID/NEU/04539/2019/PTpt
dc.relationinfo:eu-repo/grantAgreement/FCT/FARH/SFRH/BD/86622/2012/PT/ESTABLISHING THE PATHOGENECITY OF NOVEL MITOCHONDRIAL DNA MUTATIONS: A CELL AND MOLECULAR BIOLOGY APPROACHpt
dc.relationinfo:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C/SAU/LA0001/2013/PT/Strategic Project - LA 1 - 2013-2014pt
dc.rightsopenAccesspt
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt
dc.subjectHigh-resolution meltingpt
dc.subjectLHONpt
dc.subjectidebenonept
dc.subjectmtDNA variantpt
dc.subjectreal-time PCRpt
dc.subjecttheranosticspt
dc.titleGenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variantspt
dc.typearticle-
degois.publication.firstPage64pt
degois.publication.lastPage70pt
degois.publication.titleMitochondrionpt
dc.peerreviewedyespt
dc.identifier.doi10.1016/j.mito.2023.01.006pt
degois.publication.volume69pt
dc.date.embargo2023-01-27*
uc.date.periodoEmbargo0pt
item.grantfulltextopen-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.openairetypearticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.fulltextCom Texto completo-
crisitem.author.researchunitCIBB - Center for Innovative Biomedicine and Biotechnology-
crisitem.author.researchunitCNC - Center for Neuroscience and Cell Biology-
crisitem.author.orcid0000-0002-1173-6481-
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
I&D CIBB - Artigos em Revistas Internacionais
I&D CNC - Artigos em Revistas Internacionais
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