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Chronic progressive external ophthalmoplegia in patients with large heteroplasmic mitochondrial DNA deletions: an immunocytochemical study

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Summary

Immunocytochemical studies with a holocomplex antibody battery in patients with chronic progressive external ophthalmoplegia, with and without large mitochondrial DNA deletions, revealed positive (and often increased) immunoreactivity for all complexes studied in histochemically cytochrome oxidase (COX)-negative areas, suggesting a compensatory upregulation of these components. Similar findings were observed with subunit-specific probes directed against both nuclear- and mitochondrially encoded gene products. Comparison of staining intensities between the different complexes revealed significantly more variability in COX-negative than COX-positive fibres, suggesting disordered stoichiometric control during up-regulation. These differences were confirmed using statistical models. This data challenges the view that COX-negative fibre segments have little or no mitochondrially coded protein translation.

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Authors and Affiliations

  1. Department of Medicine, University of Melbourne, Australia

    S. Collins & E. Byrne

  2. Department of Pathology, University of Melbourne, Australia

    X. Dennett

  3. Department of Biochemistry, Monash University, Australia

    S. Marzuki

Authors
  1. S. Collins
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  2. X. Dennett
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  3. E. Byrne
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  4. S. Marzuki
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Supported by the National Health and Medical Research Council

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Collins, S., Dennett, X., Byrne, E. et al. Chronic progressive external ophthalmoplegia in patients with large heteroplasmic mitochondrial DNA deletions: an immunocytochemical study. Acta Neuropathol 82, 185–192 (1991). https://doi.org/10.1007/BF00294444

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  • DOI: https://doi.org/10.1007/BF00294444

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