Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.

TitleFatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.
Publication TypeJournal Article
Year of Publication1985
AuthorsBresolin, N, Zeviani, M, Bonilla, E, Miller, RH, Leech, RW, Shanske, S, Nakagawa, M, DiMauro, S
Date Published1985 Jun
KeywordsCytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Electrophoresis, Polyacrylamide Gel, Humans, Immunologic Techniques, Infant, Kidney, Male, Microscopy, Electron, Mitochondria, Heart, Mitochondria, Liver, Mitochondria, Muscle, Muscles, Myocardium

A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 3 1/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3. Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.

Alternate JournalNeurology
Citation Key10.1212/wnl.35.6.802
PubMed ID2987757
Grant ListAM-25500 / AM / NIADDK NIH HHS / United States
NS-11766 / NS / NINDS NIH HHS / United States