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Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON
Journal article   Peer reviewed

Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON

Michael W Mather and Hagai Rottenberg
FEBS letters, v 433(1), pp 93-97
1998
PMID: 9738940

Abstract

Cytochrome c oxidase Membrane potential Mitochondrial disease Paracoccus denitrificans Proton pumping
Mutations in the human mtDNA gene encoding subunit III of cytochrome c oxidase (CO) have been reported to cause MELAS and LHON. Paracoccus denitrificans cells expressing substitutions homologous to these MELAS- and LHON-causing mutations had lower growth yield than wild type cells and lower efficiency of proton pumping by CO (e.g. lower H +/e − ratio and lower ΔΨ), but had similar CO activity. These results indicate that both substitutions (F263L>A212T) cause intrinsic uncoupling, which may be the direct cause of the diseases. These results also suggest that subunit III is involved in proton pumping.

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Web of Science research areas
Biochemistry & Molecular Biology
Biophysics
Cell Biology
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