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Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.

N Bresolin, M Zeviani, E Bonilla

    Neurology
    |June 1, 1985
    PubMed
    Summary
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    This study investigated a fatal mitochondrial disease in an infant, revealing a severe deficiency in cytochrome c oxidase activity due to potential subunit synthesis issues. The findings highlight a novel cause of complex IV deficiency in skeletal muscle.

    Area of Science:

    • Biochemistry
    • Cell Biology
    • Pediatric Neurology

    Background:

    • Mitochondrial disorders can cause severe, multi-systemic illness in infants.
    • Cytochrome c oxidase (Complex IV) is crucial for cellular respiration.
    • Defects in Complex IV assembly or function lead to energy deficits and disease.

    Observation:

    • An infant presented with progressive weakness, hypotonia, respiratory failure, seizures, and recurrent infections.
    • Muscle biopsies revealed excessive mitochondria, lipid, and glycogen, with later fibrosis and fat infiltration.
    • Chronically elevated serum lactate and undetectable cytochrome c oxidase activity were observed.

    Findings:

    • Muscle mitochondria showed a complete absence of cytochrome aa3 and severely reduced cytochrome c oxidase activity.

    Related Experiment Videos

  • Immunological assays indicated decreased amounts of reactive enzyme protein.
  • SDS-PAGE confirmed the presence of all cytochrome c oxidase subunits, suggesting a synthesis or assembly defect.

    • Implications:

    • This case suggests that decreased synthesis of one or more cytochrome c oxidase subunits can lead to a severe deficiency of functional Complex IV in skeletal muscle.
    • Understanding these defects is vital for diagnosing and potentially treating mitochondrial myopathies.
    • Further research into subunit assembly pathways is warranted for complex mitochondrial diseases.