Vitamin A treatment restores vision failures arising from Leber's hereditary optic neuropathy-linked mtDNA mutation.

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal cell-specific effects of LHON-linked mtDNA mutations remains poorly understood, and there has been no effective treatment or cure for this disorder. Using a mouse model bearing an LHON-linked ND6P25L mutation, we demonstrated that the mutation...

Topics

• Optic Atrophy, Hereditary, Leber
• Animals
• DNA, Mitochondrial
• Mice
• Vitamin A
• Mutation
• Disease Models, Animal
• Retinal Ganglion Cells
• Mitochondria
• Retina
• Humans
• NADH Dehydrogenase