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

Vela-Sebastián, AnaLópez-Gallardo, EsterEmperador, SoniaHernández-Ainsa, CarmenPacheu-Grau, DavidBlanco, IgnacioRos, AndreaPascual-Benito, EsterRabaneda-Lombarte, NeusPresas-Rodríguez, SilviaGarcía-Robles, PilarMontoya, JulioRuiz-Pesini, Eduardo2023-05-032023-05-032022-07-18http://hdl.handle.net/10668/19927Leber 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.enAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/LHONmtDNAmutationtRNADNA, MitochondrialElectron Transport Complex IHumansMutationOptic Atrophy, Hereditary, LeberRNA, TransferToxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.research article35808913open access10.1111/cge.141891399-0004PMC9543827https://zaguan.unizar.es/record/119691/files/texto_completo.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543827/pdf