Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions

I. Trounce; E. Byrne; S. Marzuki; X. Dennett; H. Sudoyo; F. Mastaglia; S.F. Berkovic

doi:10.1016/0022-510X(91)90098-R

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Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions

Journal article

Peer reviewed

Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions

I. Trounce, E. Byrne, S. Marzuki, X. Dennett, H. Sudoyo, F. Mastaglia and S.F. Berkovic

Journal of the Neurological Sciences, Vol.102(1), pp.92-99

1991

DOI: https://doi.org/10.1016/0022-510X(91)90098-R

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Abstract

The functional consequences of large heteroplasmic mtDNA deletions were investigated in a group of 6 patients with chronic progressive external ophthalmoplegia (CPEO) syndromes. State III respiration rates corrected for age were low with site I and II substrates in all cases and cytochrome oxidase activity was depressed. The severity of impairment varied and is consistent with inclusion of a variable percentage of non-functioning mitochondria (with deleted mtDNA) in the pellet. Western blot studies with a holocomplex antibody battery revealed no abnormalities in subunit content of complexes III and IV. A deficiency of several complex I subunits in 3 cases suggests that abnormal nuclear-mitochondrial regulation of complex I assembly may follow large mtDNA deletions.

Details

Title: Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions
Authors/Creators: I. Trounce (Author/Creator)
E. Byrne (Author/Creator)
S. Marzuki (Author/Creator)
X. Dennett (Author/Creator)
H. Sudoyo (Author/Creator)
F. Mastaglia (Author/Creator)
S.F. Berkovic (Author/Creator)
Publication Details: Journal of the Neurological Sciences, Vol.102(1), pp.92-99
Publisher: Elsevier BV
Identifiers: 991005540415807891
Copyright: © 1991 Published by Elsevier B.V.
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.197 Molecular & Cell Biology - Mitochondria; 1.197.564 Mitochondrial Function
Web Of Science research areas: Clinical Neurology; Neurosciences
ESI research areas: Neuroscience & Behavior