Mouse mtDNA mutant model of Leber hereditary optic neuropathy.
basic_science · Level V
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- Record sourced from PubMed, PMID 23129651.
- Also identified by DOI 10.1073/pnas.1217113109 and PMC identifier 3523873.
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Abstract
An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria, axonal swelling, and demyelination. Mitochondrial analysis revealed partial complex I and respiration defects and increased reactive oxygen species (ROS) production, whereas synaptosome analysis revealed decreased complex I activity and increased ROS but no diminution of ATP production. Thus, LHON pathophysiology may result from oxidative stress.
Medical subject headings
- DNA, Mitochondrial
- Disease Models, Animal
- NADH Dehydrogenase
- Optic Atrophy, Hereditary, Leber
- Oxidative Stress
- Retina