{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:01:52Z","timestamp":1787022112320,"version":"build-2736575974"},"reference-count":80,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T00:00:00Z","timestamp":1677196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Grant Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","award":["PICT 2018-00823"],"award-info":[{"award-number":["PICT 2018-00823"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>\n                    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&gt;A in\n                    <jats:italic>MT-ND<\/jats:italic>\n                    4, m.3460G&gt;A in\n                    <jats:italic>MT-ND<\/jats:italic>\n                    1, and m.14484T&gt;C in\n                    <jats:italic>MT-ND<\/jats:italic>\n                    6 were identified in 28% of the cases of our cohort. Secondary mutations in this Argentinean LHON cohort were m.11253T&gt;C p.Ile165Thr in\n                    <jats:italic>MT-ND<\/jats:italic>\n                    4, identified in three patients (3\/100, 3%) and m.3395A&gt;G p.Tyr30Cys in\n                    <jats:italic>MT-ND<\/jats:italic>\n                    1, 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.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0275703","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T13:30:46Z","timestamp":1677245446000},"page":"e0275703","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":6,"title":["Mitochondrial DNA variants in a cohort from Argentina with suspected Leber\u2019s hereditary optic neuropathy (LHON)"],"prefix":"10.1371","volume":"18","author":[{"given":"Paula I.","family":"Buonfiglio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebasti\u00e1n","family":"Menazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Francipane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanesa","family":"Lotersztein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ver\u00f3nica","family":"Ferreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Bel\u00e9n","family":"Elgoyhen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5283-4726","authenticated-orcid":true,"given":"Viviana","family":"Dalam\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2023,2,24]]},"reference":[{"key":"pone.0275703.ref001","first-page":"348","article-title":"Leber\u2019s optic atrophy, a possible example of maternal inheritance","volume":"24","author":"RP Erickson","year":"1972","journal-title":"Am J Hum Genet"},{"key":"pone.0275703.ref002","first-page":"51","article-title":"Mutation analysis of Leber\u2019s hereditary optic neuropathy using a multi\u2011gene panel","volume":"8","author":"Y Dai","year":"2018","journal-title":"Biomedical Reports"},{"key":"pone.0275703.ref003","first-page":"131","article-title":"Impaired complex I repair causes recessive Leber\u2019s hereditary optic neuropathy","author":"SL Stenton","year":"2021","journal-title":"J Clin Invest"},{"key":"pone.0275703.ref004","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ana.24362","article-title":"Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease","volume":"77","author":"GS Gorman","year":"2015","journal-title":"Ann Neurol"},{"key":"pone.0275703.ref005","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathies\u2014disease mechanisms and therapeutic strategies","volume":"30","author":"P Yu-Wai-Man","year":"2011","journal-title":"Prog Retin Eye Res"},{"key":"pone.0275703.ref006","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s10038-006-0032-2","article-title":"Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy","volume":"51","author":"X Jia","year":"2006","journal-title":"J Hum Genet"},{"key":"pone.0275703.ref007","first-page":"481","article-title":"Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy","volume":"59","author":"DA Mackey","year":"1996","journal-title":"Am J Hum Genet"},{"key":"pone.0275703.ref008","unstructured":"MutationsLHON < MITOMAP < Foswiki. 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