Induced Pluripotent Stem Cells in Leber Hereditary Optic Neuropathy

Abstract

　Leber hereditary optic neuropathy（LHON）is a maternally inherited optic neuropathy caused by point mutations in the mitochondrial gene. It is speculated that genetically mutated retinal ganglion cells are central to the pathogenesis of LHON; but some external factors may also be in volved in the onset of this disease. Clinical studies have shown that LHON is caused by a wide range of factors, including smoking or heavy alcohol consumption. However, the behavior of reti nal ganglion cells post exposure to external factors remains unknown.

　Although animal models are commonly used for basic research on retinal tissue, it is difficult to accurately reflect cellular behavior in pathological studies owing to the differences between ani

mal and human tissues. Induced pluripotent stem（iPS）cells can be used to differentiate retinal ganglion cells from human iPS cells to obtain human tissue, increasing the possibility of observ ing cell behavior similar to actual pathological conditions.