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Article

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

Clinical genetics - 1 Oct 2022

Vela-Sebastián Ana, López-Gallardo Ester, Emperador Sonia, Hernández-Ainsa Carmen, Pacheu-Grau David, Blanco Ignacio, Ros Andrea, Pascual-Benito Ester, Rabaneda-Lombarte Neus, Presas-Rodríguez Silvia, García-Robles Pilar, Montoya Julio, Ruiz-Pesini Eduardo

Abstract excerpt

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...

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Identifiers

PMID: 35808913
DOI: 10.1111/cge.14189
PMCID: PMC9543827

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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