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

Abstract:

:Mutations in the human mtDNA gene encoding subunit III of cytochrome c oxidase (CO) have been reported to cause MELAS and LHON. Poracoccus 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 deltapsi), 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.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Mather MW,Rottenberg H

doi

10.1016/s0014-5793(98)00891-6

subject

Has Abstract

pub_date

1998-08-14 00:00:00

pages

93-7

issue

1-2

eissn

0014-5793

issn

1873-3468

pii

S0014-5793(98)00891-6

journal_volume

433

pub_type

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