Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/105249
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Martins, Sara | - |
dc.contributor.author | Santos, Maria João | - |
dc.contributor.author | Teixeira, Márcia | - |
dc.contributor.author | Diogo, Luisa | - |
dc.contributor.author | Macário, Maria do Carmo | - |
dc.contributor.author | Pedro Marques, João | - |
dc.contributor.author | Fonseca, Pedro | - |
dc.contributor.author | Grazina, Manuela | - |
dc.date.accessioned | 2023-02-10T13:54:56Z | - |
dc.date.available | 2023-02-10T13:54:56Z | - |
dc.date.issued | 2023-01-27 | - |
dc.identifier.issn | 15677249 | pt |
dc.identifier.uri | https://hdl.handle.net/10316/105249 | - |
dc.description.abstract | Leber'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.sponsorship | This 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.iso | eng | pt |
dc.publisher | Elsevier | pt |
dc.relation | CENTRO-01-0145-FEDER-000012-N2323 (HealthyAging2020) | pt |
dc.relation | info:eu-repo/grantAgreement/POCI‐01‐0145‐FEDER-007440/PT | pt |
dc.relation | info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID/NEU/04539/2019/PT | pt |
dc.relation | info:eu-repo/grantAgreement/FCT/FARH/SFRH/BD/86622/2012/PT/ESTABLISHING THE PATHOGENECITY OF NOVEL MITOCHONDRIAL DNA MUTATIONS: A CELL AND MOLECULAR BIOLOGY APPROACH | pt |
dc.relation | info:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C/SAU/LA0001/2013/PT/Strategic Project - LA 1 - 2013-2014 | pt |
dc.rights | openAccess | pt |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | pt |
dc.subject | High-resolution melting | pt |
dc.subject | LHON | pt |
dc.subject | idebenone | pt |
dc.subject | mtDNA variant | pt |
dc.subject | real-time PCR | pt |
dc.subject | theranostics | pt |
dc.title | GenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants | pt |
dc.type | article | - |
degois.publication.firstPage | 64 | pt |
degois.publication.lastPage | 70 | pt |
degois.publication.title | Mitochondrion | pt |
dc.peerreviewed | yes | pt |
dc.identifier.doi | 10.1016/j.mito.2023.01.006 | pt |
degois.publication.volume | 69 | pt |
dc.date.embargo | 2023-01-27 | * |
uc.date.periodoEmbargo | 0 | pt |
item.openairetype | article | - |
item.fulltext | Com Texto completo | - |
item.languageiso639-1 | en | - |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
crisitem.author.researchunit | CIBB - Center for Innovative Biomedicine and Biotechnology | - |
crisitem.author.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.author.orcid | 0000-0002-1173-6481 | - |
Appears in Collections: | FMUC Medicina - Artigos em Revistas Internacionais I&D CIBB - Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
1-s2.0-S1567724923000065-main.pdf | 2.26 MB | Adobe PDF | View/Open |
Page view(s)
90
checked on Jul 16, 2024
Download(s)
43
checked on Jul 16, 2024
Google ScholarTM
Check
Altmetric
Altmetric
This item is licensed under a Creative Commons License