title: Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study.
abstract: This is the first report with histochemical and immunohistochemical techniques of an autopsy case with mitochondrial encephalomyopathy caused by the mitochondrial tRNA(Ile) (nt4269) A to G mutation showing focal cytochrome c oxidase (COX) deficiency of neuronal cells. The 18-year-old male patient had cardiomyopathy, hearing disability, mental retardation, and seizures. Muscle biopsy exhibited many ragged-red fibers and focal COX deficiency. A postmortem histochemical study on frozen sections of the cerebral cortex, cerebellum, brain stem, and dorsal root ganglia revealed a loss of COX activity in some neuronal cells. On immunohistochemical staining, COX was also defective in a mosaic pattern. Focal COX deficiency may cause variable neurological manifestations in mitochondrial encephalomyopathies.
authors.affiliation: Department of Neurology, Osaka University Medical School, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kaido
authors.forename: H
authors.initials: H
authors.lastname: Fujimura
authors.forename: M
authors.initials: M
authors.lastname: Taniike
authors.forename: H
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: K
authors.initials: K
authors.lastname: Toyooka
authors.forename: S
authors.initials: S
authors.lastname: Yorifuji
authors.forename: K
authors.initials: K
authors.lastname: Inui
authors.forename: S
authors.initials: S
authors.lastname: Okada
authors.forename: M
authors.initials: M
authors.lastname: Sparaco
authors.forename: T
authors.initials: T
authors.lastname: Yanagihara
mesh_terms: D000293:Adolescent; D001921:Brain / Q000166:cytology / Q000201:enzymology* / Q000648:ultrastructure; D030401:Cytochrome-c Oxidase Deficiency; D004579:Electron Transport / Q000502:physiology; D017809:Fatal Outcome; D005727:Ganglia, Spinal / Q000166:cytology / Q000201:enzymology* / Q000648:ultrastructure; D006651:Histocytochemistry; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000201:enzymology; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology* / Q000235:genetics; D018485:Muscle Fibers, Skeletal / Q000201:enzymology; D009154:Mutation / Q000502:physiology; D009206:Myocardium / Q000201:enzymology; D009474:Neurons / Q000201:enzymology; D016658:Psoas Muscles / Q000201:enzymology; D012355:RNA, Transfer, Ile / Q000235:genetics*
chemical_list: D012355:RNA, Transfer, Ile