Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases

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Abstract

A lowered efficiency of oxidative phosphorylation was recently found in a Leber hereditary optic neuropathy (LHON) proband carrying a mutation in the mtDNA gene for subunit 6 of the membrane-bound F0 segment of the F1F0-ATP synthase [9]. This phenotype was transferred to cytoplasmic hybrid cells together with the mutation, proving its functional significance. Increasing the respiratory rate in the mitochondria from this mutant raised the ATP/2e- ratio back to normal values. A different mutation in the same mtDNA gene has been found in patients with the NARP syndrome [10]. Although the ATP/2e- ratio is also decreased in this mutant, in this case an increase in the respiratory rate could not compensate for it, whilst both mutations affect subunit 6 of the proton-translocating Fo segment, the LHON mutation induces a proton leak whereas the NARP mutation blocks proton translocation. Hence, the latter will have much more destructive metabolic consequences in agreement with the large clinical differences between the two diseases.

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Majander, A., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, M. L., & Wikström, M. (1997). Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases. FEBS Letters, 412(2), 351–354. https://doi.org/10.1016/S0014-5793(97)00757-6

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