The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics.

@article{Solaini2008TheSO,
  title={The study of the pathogenic mechanism of mitochondrial diseases provides information on basic bioenergetics.},
  author={Giancarlo Solaini and David A Harris and Giorgio Lenaz and Gianluca Sgarbi and Alessandra Baracca},
  journal={Biochimica et biophysica acta},
  year={2008},
  volume={1777 7-8},
  pages={941-5}
}
Mitochondrial F(1)F(0)-ATPase was studied in lymphocytes from patients with neuropathy, ataxia, and retinitis pigmentosa (NARP), caused by a mutation at leu-156 in the ATPase 6 subunit. The mutation giving the milder phenotype (Leu156Pro) suffered a 30% reduction in proton flux, and a similar loss in ATP synthetic activity. The more severe mutation… CONTINUE READING