Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1784894501734580224 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9956067 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT buonfigliopaulai mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon AT menazzisebastian mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon AT francipaneliliana mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon AT loterszteinvanesa mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon AT ferreiroveronica mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon AT elgoyhenanabelen mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon AT dalamonviviana mitochondrialdnavariantsinacohortfromargentinawithsuspectedlebershereditaryopticneuropathylhon |