FOCAL CYTOCHROME-C-OXIDASE DEFICIENCY IN THE BRAIN AND DORSAL-ROOT GANGLIA IN A CASE WITH MITOCHONDRIAL ENCEPHALOMYOPATHY (TRNA(IIE)-4269 MUTATION) - HISTOCHEMICAL, IMMUNOHISTOCHEMICAL, AND ULTRASTRUCTURAL-STUDY

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:131

Article

KAIDO, M ; FUJIMURA, H ; TANIIKE, M ; YOSHIKAWA, H ; TOYOOKA, K ; YORIFUJI, S ; KOJI, I ; OKADA, S ; SPARACO, M ; YANAGIHARA, T

关键词: MITOCHONDRIAL ENCEPHALOMYOPATHY;    FOCAL CYTOCHROME C OXIDASE DEFICIENCY;    NERVOUS SYSTEM;    HISTOCHEMISTRY;    IMMUNOHISTOCHEMISTRY;   

DOI  :  10.1016/0022-510X(95)00111-E

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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