Journal of Bioenergetics and Biomembranes

, Volume 20, Issue 2, pp 161–191 | Cite as

The biochemical basis of mitochondrial diseases

  • H. R. Scholte
Mini-Review

Abstract

Disfunctioning of human mitochondria is found in a rapidly increasing number of patients. The mitochondrial system for energy transduction is very vulnerable to damage by genetic and environmental factors. A primary mitochondrial disease is caused by a genetic defect in a mitochondrial enzyme or translocator. More than 60 mitochondrial enzyme deficiencies have been reported. Secondary mitochondrial defects are caused by lack of compounds to enable a proper mitochondrial function or by inhibition of that function. This may result from malnutrition, circulatory or hormonal disturbances, viral infection, poisoning, or an extramitochondrial error of metabolism. Once mitochondrial ATP synthesis decreases, secondary mitochondrial lesions may be generated further, due to changes in synthesis and degradation of mitochondrial phospholipids and proteins, to mitochondrial antibody formation following massive degradation, to accumulation of toxic products as excess acyl-CoA, to the depletion of Krebs cycle intermediates, and to the increase of free radical formation and lipid peroxidation.

Key Words

Beta-oxidation carnitine deficiency coenzyme Q mitochondrial diseases mitochondrial myopathies NADH-CoQ reductase deficiency oxidative phosphorylation respiratory chain defects therapy of mitochondrial diseases 

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Copyright information

© Plenum Publishing Corporation 1988

Authors and Affiliations

  • H. R. Scholte
    • 1
  1. 1.Department of Biochemistry IErasmus University RotterdamRotterdamThe Netherlands

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