%0 Journal Article %A Vela-Sebastián, Ana %A López-Gallardo, Ester %A Emperador, Sonia %A Hernández-Ainsa, Carmen %A Pacheu-Grau, David %A Blanco, Ignacio %A Ros, Andrea %A Pascual-Benito, Ester %A Rabaneda-Lombarte, Neus %A Presas-Rodríguez, Silvia %A García-Robles, Pilar %A Montoya, Julio %A Ruiz-Pesini, Eduardo %T Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation. %D 2022 %U http://hdl.handle.net/10668/19927 %X Leber 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. %K LHON %K mtDNA %K mutation %K tRNA %~