Mitochondrial encephalomyopathies: Biochemical approach

S. DiMauro, Carlos 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 journalArticle

11 Citations (Scopus)

Abstract

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
Pages (from-to)443-449
Number of pages7
JournalRevue Neurologique
Volume147
Issue number6-7
StatePublished - Jan 1 1991
Externally publishedYes

Fingerprint

Mitochondrial Encephalomyopathies
Mitochondrial DNA
Cytochrome-c Oxidase Deficiency
Kearns-Sayre Syndrome
Muscle Proteins
Mitochondrial Proteins
Muscular Diseases
Transfer RNA
In Situ Hybridization
Molecular Biology
Oxidoreductases
Fibroblasts
Immunohistochemistry
Biopsy
Muscles
Enzymes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

DiMauro, S., Moraes, C. T., Shanske, S., Lombes, A., Nakase, H., Mita, S., ... Schon, E. A. (1991). Mitochondrial encephalomyopathies: Biochemical approach. Revue Neurologique, 147(6-7), 443-449.

Mitochondrial encephalomyopathies : Biochemical approach. / DiMauro, S.; Moraes, Carlos T; Shanske, S.; Lombes, A.; Nakase, H.; Mita, S.; Tritschler, H. J.; Bonilla, E.; Miranda, A. F.; Schon, E. A.

In: Revue Neurologique, Vol. 147, No. 6-7, 01.01.1991, p. 443-449.

Research output: Contribution to journalArticle

DiMauro, S, Moraes, CT, Shanske, S, Lombes, A, Nakase, H, Mita, S, Tritschler, HJ, Bonilla, E, Miranda, AF & Schon, EA 1991, 'Mitochondrial encephalomyopathies: Biochemical approach', Revue Neurologique, vol. 147, no. 6-7, pp. 443-449.
DiMauro S, Moraes CT, Shanske S, Lombes A, Nakase H, Mita S et al. Mitochondrial encephalomyopathies: Biochemical approach. Revue Neurologique. 1991 Jan 1;147(6-7):443-449.
DiMauro, S. ; Moraes, Carlos T ; Shanske, S. ; Lombes, A. ; Nakase, H. ; Mita, S. ; Tritschler, H. J. ; Bonilla, E. ; Miranda, A. F. ; Schon, E. A. / Mitochondrial encephalomyopathies : Biochemical approach. In: Revue Neurologique. 1991 ; Vol. 147, No. 6-7. pp. 443-449.
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