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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)

The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an Argentinean cohort, analyzing 3 LHON-associated mitochondrial genes. In 32% of the cases, molecular confirmation of the diagnosis could be est...

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Autores principales: Buonfiglio, Paula I., Menazzi, Sebastián, Francipane, Liliana, Lotersztein, Vanesa, Ferreiro, Verónica, Elgoyhen, Ana Belén, Dalamón, Viviana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956067/
https://www.ncbi.nlm.nih.gov/pubmed/36827238
http://dx.doi.org/10.1371/journal.pone.0275703
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author Buonfiglio, Paula I.
Menazzi, Sebastián
Francipane, Liliana
Lotersztein, Vanesa
Ferreiro, Verónica
Elgoyhen, Ana Belén
Dalamón, Viviana
author_facet Buonfiglio, Paula I.
Menazzi, Sebastián
Francipane, Liliana
Lotersztein, Vanesa
Ferreiro, Verónica
Elgoyhen, Ana Belén
Dalamón, Viviana
author_sort Buonfiglio, Paula I.
collection PubMed
description The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an Argentinean cohort, analyzing 3 LHON-associated mitochondrial genes. In 32% of the cases, molecular confirmation of the diagnosis could be established, due to the identification of disease-causing variants. A total of 54 variants were observed in a cohort of 100 patients tested with direct sequencing analysis. The frequent causative mutations m.11778G>A in MT-ND4, m.3460G>A in MT-ND1, and m.14484T>C in MT-ND6 were identified in 28% of the cases of our cohort. Secondary mutations in this Argentinean LHON cohort were m.11253T>C p.Ile165Thr in MT-ND4, identified in three patients (3/100, 3%) and m.3395A>G p.Tyr30Cys in MT-ND1, in one of the patients studied (1%). This study shows, for the first time, the analysis of mtDNA variants in patients with a probable diagnosis of LHON in Argentina. Standard molecular methods are an effective first approach in order to achieve genetic diagnosis of the disease, leaving NGS tests for those patients with negative results.
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spelling pubmed-99560672023-02-25 Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON) Buonfiglio, Paula I. Menazzi, Sebastián Francipane, Liliana Lotersztein, Vanesa Ferreiro, Verónica Elgoyhen, Ana Belén Dalamón, Viviana PLoS One Research Article The present study investigates the spectrum and analysis of mitochondrial DNA (mtDNA) variants associated with Leber hereditary optic neuropathy (LHON) in an Argentinean cohort, analyzing 3 LHON-associated mitochondrial genes. In 32% of the cases, molecular confirmation of the diagnosis could be established, due to the identification of disease-causing variants. A total of 54 variants were observed in a cohort of 100 patients tested with direct sequencing analysis. The frequent causative mutations m.11778G>A in MT-ND4, m.3460G>A in MT-ND1, and m.14484T>C in MT-ND6 were identified in 28% of the cases of our cohort. Secondary mutations in this Argentinean LHON cohort were m.11253T>C p.Ile165Thr in MT-ND4, identified in three patients (3/100, 3%) and m.3395A>G p.Tyr30Cys in MT-ND1, in one of the patients studied (1%). This study shows, for the first time, the analysis of mtDNA variants in patients with a probable diagnosis of LHON in Argentina. Standard molecular methods are an effective first approach in order to achieve genetic diagnosis of the disease, leaving NGS tests for those patients with negative results. Public Library of Science 2023-02-24 /pmc/articles/PMC9956067/ /pubmed/36827238 http://dx.doi.org/10.1371/journal.pone.0275703 Text en © 2023 Buonfiglio et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Buonfiglio, Paula I.
Menazzi, Sebastián
Francipane, Liliana
Lotersztein, Vanesa
Ferreiro, Verónica
Elgoyhen, Ana Belén
Dalamón, Viviana
Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
title Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
title_full Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
title_fullStr Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
title_full_unstemmed Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
title_short Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)
title_sort mitochondrial dna variants in a cohort from argentina with suspected leber’s hereditary optic neuropathy (lhon)
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956067/
https://www.ncbi.nlm.nih.gov/pubmed/36827238
http://dx.doi.org/10.1371/journal.pone.0275703
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