Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.

@article{Brown2000FunctionalAO,
  title={Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation.},
  author={Michael D. Brown and Ian A Trounce and Albert S. Jun and Jon C. Allen and Douglas C. Wallace},
  journal={The Journal of biological chemistry},
  year={2000},
  volume={275 51},
  pages={39831-6}
}
Leber's hereditary optic neuropathy (LHON) is a form of blindness caused by mitochondrial DNA (mtDNA) mutations in complex I genes. We report an extensive biochemical analysis of the mitochondrial defects in lymphoblasts and transmitochondrial cybrids harboring the three most common LHON mutations: 3460A, 11778A, and 14484C. Respiration studies revealed that the 3460A mutation reduced the maximal respiration rate 20-28%, the 11778A mutation 30-36%, and the 14484C mutation 10-15%. The… CONTINUE READING

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