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Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)
Author(s) -
Hayasaka K.,
Brown G. K.,
Danks D. M.,
Droste M.,
Kadenbach B.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799214
Subject(s) - cytochrome c oxidase , cytochrome , encephalopathy , biology , electron transport complex iv , oxidase test , biochemistry , enzyme , microbiology and biotechnology , medicine
Summary Tissues and cultured fibroblasts from two patients with Leigh syndrome (subacute necrotizing encephalopathy) were examined. A systemic defect in cytochrome oxidase was identified by enzyme assay and estimation of cytochrome concentrations. Immunochemical analysis showed a reduction of most subunits of the cytochrome oxidase complex. The rate of synthesis of cytochrome oxidase subunits, determined by labelling experiments in cultured fibroblasts, was the same in the patients and normal controls. The reduced cytochrome oxidase content of the patients' tissues must therefore result from abnormal turnover of the protein subunits.