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
JournalNeurology
Volume35
Issue6
Pagination802-12
Date Published1985 Jun
ISSN0028-3878
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
Abstract

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.

DOI10.1212/wnl.35.6.802
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