RT Journal Article
T1 Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
A1 Vela-Sebastián, Ana
A1 López-Gallardo, Ester
A1 Emperador, Sonia
A1 Hernández-Ainsa, Carmen
A1 Pacheu-Grau, David
A1 Blanco, Ignacio
A1 Ros, Andrea
A1 Pascual-Benito, Ester
A1 Rabaneda-Lombarte, Neus
A1 Presas-Rodríguez, Silvia
A1 García-Robles, Pilar
A1 Montoya, Julio
A1 Ruiz-Pesini, Eduardo
K1 LHON
K1 mtDNA
K1 mutation
K1 tRNA
AB 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.
YR 2022
FD 2022-07-18
LK http://hdl.handle.net/10668/19927
UL http://hdl.handle.net/10668/19927
LA en
DS RISalud
RD Apr 10, 2025