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Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.

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dc.contributor.authorVela-Sebastián, Ana
dc.contributor.authorLópez-Gallardo, Ester
dc.contributor.authorEmperador, Sonia
dc.contributor.authorHernández-Ainsa, Carmen
dc.contributor.authorPacheu-Grau, David
dc.contributor.authorBlanco, Ignacio
dc.contributor.authorRos, Andrea
dc.contributor.authorPascual-Benito, Ester
dc.contributor.authorRabaneda-Lombarte, Neus
dc.contributor.authorPresas-Rodríguez, Silvia
dc.contributor.authorGarcía-Robles, Pilar
dc.contributor.authorMontoya, Julio
dc.contributor.authorRuiz-Pesini, Eduardo
dc.date.accessioned2023-05-03T13:28:40Z
dc.date.available2023-05-03T13:28:40Z
dc.date.issued2022-07-18
dc.description.abstractLeber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.
dc.identifier.doi10.1111/cge.14189
dc.identifier.essn1399-0004
dc.identifier.pmcPMC9543827
dc.identifier.pmid35808913
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543827/pdf
dc.identifier.unpaywallURLhttps://zaguan.unizar.es/record/119691/files/texto_completo.pdf
dc.identifier.urihttp://hdl.handle.net/10668/19927
dc.issue.number4
dc.journal.titleClinical genetics
dc.journal.titleabbreviationClin Genet
dc.language.isoen
dc.organizationHospital Universitario Virgen de las Nieves
dc.page.number339-344
dc.pubmedtypeCase Reports
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectLHON
dc.subjectmtDNA
dc.subjectmutation
dc.subjecttRNA
dc.subject.meshDNA, Mitochondrial
dc.subject.meshElectron Transport Complex I
dc.subject.meshHumans
dc.subject.meshMutation
dc.subject.meshOptic Atrophy, Hereditary, Leber
dc.subject.meshRNA, Transfer
dc.titleToxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number102
dspace.entity.typePublication

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