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  • Title: Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome.
    Author: Kobayashi M, Morishita H, Sugiyama N, Yokochi K, Nakano M, Wada Y, Hotta Y, Terauchi A, Nonaka I.
    Journal: J Pediatr; 1987 Feb; 110(2):223-7. PubMed ID: 3100753.
    Abstract:
    Muscle biopsy specimens from two patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) were studied biochemically. 14CO2 production rates from (1-14C)pyruvate, (U-14C)malate, and (1-14C)2-ketoglutarate were all decreased in intact mitochondria in both patients. Rotenone-sensitive NADH cytochrome c reductase activities were decreased to 8% (patient 1) and 6% (patient 2) of control values; succinate cytochrome c reductase and cytochrome c oxidase values were within normal limits. These results indicate that both patients have a defect of NADH-CoQ reductase of the respiratory chain and that MELAS can be brought about by a defect of NADH-CoQ reductase.
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