Molecular defects in cytochrome oxidase in mitochondrial diseases

Salvatore DiMauro, Massimo Zeviani, Rosario Rizzuto, Anne Lombes, Hirofumi Nakase, Eduardo Bonilla, Armand Miranda, Eric Schon

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Defects of cytochrome c oxidase (COX) show remarkable clinical, biochemical, and genetic heterogeneity. Clinically, there are two main groups of disorders, one dominated by muscle involvement, the other by brain dysfunction. Biochemically, the enzyme defect may be confined to one or a few tissues (reflecting the existence of tissue-specific isozymes) or affect all tissues. Immunologically reactive enzyme protein is decreased in some forms of COX deficiency but not in others. Because COX is encoded both by nuclear and by mitochondrial genes, COX deficiencies may be due to mutations of either genome and may offer useful models to study the communication between nuclei and mitochondria. We have isolated full-length cDNA clones encoding human COX subunits IV, Vb, and VIII and a partial-length clone for subunit Va. These clones are being used as probes to analyze the DNA and RNA of patients with COX deficiency.

Original languageEnglish
Pages (from-to)353-364
Number of pages12
JournalJournal of Bioenergetics and Biomembranes
Volume20
Issue number3
DOIs
Publication statusPublished - Jun 1988

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Mitochondrial Diseases
Electron Transport Complex IV
Oxidoreductases
Clone Cells
Mitochondrial Genes
Genetic Heterogeneity
Enzymes
Isoenzymes
Molecular Biology
Mitochondria
Complementary DNA
Communication
Genome
RNA
Muscles
Mutation
DNA
Brain
Proteins

Keywords

  • complex IV
  • Cytochrome c oxidase
  • isozymes
  • Leigh syndrome
  • maternal inheritance
  • MERRF (myoclonus epilepsy with ragged-red fibers)
  • mitochondrial encephalomyopathies
  • mitochondrial myopathies
  • respiratory chain

ASJC Scopus subject areas

  • Physiology
  • Cell Biology

Cite this

DiMauro, S., Zeviani, M., Rizzuto, R., Lombes, A., Nakase, H., Bonilla, E., ... Schon, E. (1988). Molecular defects in cytochrome oxidase in mitochondrial diseases. Journal of Bioenergetics and Biomembranes, 20(3), 353-364. https://doi.org/10.1007/BF00769637

Molecular defects in cytochrome oxidase in mitochondrial diseases. / DiMauro, Salvatore; Zeviani, Massimo; Rizzuto, Rosario; Lombes, Anne; Nakase, Hirofumi; Bonilla, Eduardo; Miranda, Armand; Schon, Eric.

In: Journal of Bioenergetics and Biomembranes, Vol. 20, No. 3, 06.1988, p. 353-364.

Research output: Contribution to journalArticle

DiMauro, S, Zeviani, M, Rizzuto, R, Lombes, A, Nakase, H, Bonilla, E, Miranda, A & Schon, E 1988, 'Molecular defects in cytochrome oxidase in mitochondrial diseases', Journal of Bioenergetics and Biomembranes, vol. 20, no. 3, pp. 353-364. https://doi.org/10.1007/BF00769637
DiMauro S, Zeviani M, Rizzuto R, Lombes A, Nakase H, Bonilla E et al. Molecular defects in cytochrome oxidase in mitochondrial diseases. Journal of Bioenergetics and Biomembranes. 1988 Jun;20(3):353-364. https://doi.org/10.1007/BF00769637
DiMauro, Salvatore ; Zeviani, Massimo ; Rizzuto, Rosario ; Lombes, Anne ; Nakase, Hirofumi ; Bonilla, Eduardo ; Miranda, Armand ; Schon, Eric. / Molecular defects in cytochrome oxidase in mitochondrial diseases. In: Journal of Bioenergetics and Biomembranes. 1988 ; Vol. 20, No. 3. pp. 353-364.
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