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

Clin Genet. 2022 Oct;102(4):339-344. doi: 10.1111/cge.14189. Epub 2022 Jul 18.

Abstract

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.

Keywords: LHON; mtDNA; mutation; tRNA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics
  • Electron Transport Complex I / genetics
  • Humans
  • Mutation
  • Optic Atrophy, Hereditary, Leber* / genetics
  • Optic Atrophy, Hereditary, Leber* / pathology
  • RNA, Transfer / genetics

Substances

  • DNA, Mitochondrial
  • RNA, Transfer
  • Electron Transport Complex I