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.
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.
Kaido
M
M
Department of Neurology, Osaka University Medical School, Japan.
Fujimura
H
H
Taniike
M
M
Yoshikawa
H
H
Toyooka
K
K
Yorifuji
S
S
Inui
K
K
Okada
S
S
Sparaco
M
M
Yanagihara
T
T
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*
D012355:RNA, Transfer, Ile