Abstract
Mitochondrial (mt) myopathies are neuromuscular disorders caused by defects in mt metabolism. Hsp70 and 60 stabilize structures of mt polypeptides to assure membrane transport resp. assembly into functional enzymes. In one of 30 patient fibroblast cultures hsp60 was hardly detectable. The patient, from consanguineous parents, suffered from lactic acidosis and died 2 days after birth. Heat shock of the fibroblasts caused a minor increase of hsp60 and normal hsp70 induction. Increase of hsp60 mRNA was normal, suggesting defective translation or unstable hsp60 protein. Hsp60 deficiency is likely to cause defects in mt enzymes: activities of cyt. c oxidase, succinate cyt. c reductase and propionyl CoA carboxylase and leucine decarboxylation were deficient. Experiments to show the relation between hsp60 deficiency and the enzyme deficiencies will be discussed.
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Agsteribbe, E., Skjeldal, O., Huckriede, A. et al. 149 MITOCHONDRIAL MYOPATHY: DEFICIENCY OF HEAT SHOCK PROTEIN 60 (HSP60). Pediatr Res 30, 653 (1991). https://doi.org/10.1203/00006450-199112000-00179
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DOI: https://doi.org/10.1203/00006450-199112000-00179