Academic Journal
GenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants
| العنوان: | GenEye24: Novel Rapid Screening Test for the Top-3 Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants |
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| المؤلفون: | Martins, Sara, Santos, Maria João, Teixeira, Márcia, Diogo, Luisa, Macário, Maria do Carmo, Pedro Marques, João, Fonseca, Pedro, Grazina, Manuela |
| بيانات النشر: | Elsevier |
| سنة النشر: | 2023 |
| المجموعة: | Universidade de Coimbra: Estudo Geral |
| مصطلحات موضوعية: | High-resolution melting, LHON, idebenone, mtDNA variant, real-time PCR, theranostics |
| الوصف: | 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. ; 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). |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 15677249 |
| Relation: | #PLACEHOLDER_PARENT_METADATA_VALUE#; CENTRO-01-0145-FEDER-000012-N2323 (HealthyAging2020); info:eu-repo/grantAgreement/POCI‐01‐0145‐FEDER-007440/PT; info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID/NEU/04539/2019/PT; 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; info:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C/SAU/LA0001/2013/PT/Strategic Project - LA 1 - 2013-2014; http://hdl.handle.net/10316/105249 |
| DOI: | 10.1016/j.mito.2023.01.006 |
| الاتاحة: | http://hdl.handle.net/10316/105249 https://doi.org/10.1016/j.mito.2023.01.006 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.4546B99D |
| قاعدة البيانات: | BASE |
| تدمد: | 15677249 |
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| DOI: | 10.1016/j.mito.2023.01.006 |