Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis.

@article{Danielson2002CellsBM,
  title={Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis.},
  author={Steven R. Danielson and Alice Wong and V Carelli and Andrea Martinuzzi and Anthony H V Schapira and Gino A. Cortopassi},
  journal={The Journal of biological chemistry},
  year={2002},
  volume={277 8},
  pages={
          5810-5
        }
}
Three prevalent mitochondrial DNA pathogenic mutations at positions 11778, 3460, and 14484, which affect different subunits of Complex I, cause retinal ganglion cell death and optic nerve atrophy in Leber's hereditary optic neuropathy (LHON). The cell death is painless and without inflammation, consistent with an apoptotic mechanism. We have investigated the possibility that the LHON mutation confers a pro-apoptotic stimulus and have tested the sensitivity of osteosarcoma-derived cybrid cells… CONTINUE READING

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