Mitochondrial encephalomyopathies: Biochemical approach

S. DiMauro, C. T. Moraes, S. Shanske, A. Lombes, H. Nakase, S. Mita, H. J. Tritschler, E. Bonilla, A. F. Miranda, E. A. Schon

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Thanks to recent advances in the molecular genetics of mitochondrial encephalomyopathies, we can now begin to correlate genetic lesions with biochemical defects. In the fatal infantile myopathy due to cytochrome c oxidase (COX) deficiency, an autosomal recessive condition, immunocytochemical studies have shown an isolated defect of subunit VIIa, wbich is 1 of the only 2 tissue-specific subunits of human COX. In muscle biopsies from patients with Kearns-Sayre syndrome, a multisystem disorder characterized by deletions of the mitochondrial DNA (mtDNA), the activities of all mitochondrial enzymes containing mtDNA-encoded subunits are decreased. The results of Northern analysis, in situ hybridization, and immunocytochemistry in muscle, and of mitochondrial protein synthesis in cultured fibroblasts suggest that partially deleted mtDNAs are transcribed but not translated, probably due to lack of indispensable tRNAs.

Original languageEnglish (US)
Pages (from-to)443-449
Number of pages7
JournalRevue Neurologique
Issue number6-7
StatePublished - 1991
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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