Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Ana Vela-SebastiánEster López-GallardoSonia EmperadorCarmen Hernández-AinsaDavid Pacheu-GrauIgnacio BlancoAndrea RosEster Pascual-BenitoNeus Rabaneda-LombarteSilvia Presas-RodríguezPilar García-RoblesJulio MontoyaEduardo Ruiz-PesiniPublished in: Clinical genetics (2022)
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.
Keyphrases
- mitochondrial dna
- copy number
- oxidative stress
- genome wide
- end stage renal disease
- ejection fraction
- newly diagnosed
- peritoneal dialysis
- dna methylation
- neoadjuvant chemotherapy
- prognostic factors
- genome wide identification
- protein kinase
- radiation therapy
- staphylococcus aureus
- cystic fibrosis
- patient reported
- genome wide analysis