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Reference charts for respiratory chain activities in human tissues

D Chretien1, P Rustin, T Bourgeron

  • 1Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, Paris, France.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|July 1, 1994
PubMed
Summary

This study quantifies respiratory chain enzyme activities in human tissues, finding consistent ratios across most tissues regardless of age. This aids in diagnosing respiratory chain deficiencies by revealing tissue-specific variations.

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Area of Science:

  • Biochemistry
  • Human Physiology
  • Medical Diagnostics

Background:

  • Respiratory chain deficiencies are a group of inherited metabolic disorders.
  • Standardized methods are crucial for accurate diagnosis and comparison of enzyme activities.
  • Understanding tissue-specific enzyme profiles is key to identifying affected organs.

Purpose of the Study:

  • To establish quantitative reference values for respiratory chain enzyme activities in common human tissues.
  • To investigate the influence of patient age on these enzyme activities, particularly in skeletal muscle.
  • To assess the consistency of respiratory chain organization across different human tissues.

Main Methods:

  • Utilized standardized micro-methods for measuring respiratory chain enzyme activities.

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  • Analyzed enzyme activities in various human tissues commonly used for screening deficiencies.
  • Compared enzyme activity levels and ratios across different age groups (0-50+ years).

    • Main Results:

    • Consistent enzyme activity ratios for the respiratory chain were observed across most investigated human tissues.
    • No significant differences in respiratory chain enzyme activities were found between different age groups in skeletal muscle.
    • Tissue-specific variations were noted, including glycerol-3-phosphate dehydrogenase activity rates and enhanced succinate dehydrogenase activity in liver.

    Conclusions:

    • The study provides valuable quantitative data for diagnosing respiratory chain deficiencies.
    • The general consistency of enzyme activity ratios simplifies the assessment of differential organ involvement.
    • Further research is needed to address remaining technical limitations in investigating these disorders.