Friedreich's ataxia II. Biochemical studies in cultured cells

B. Bertagnolio, G. Uziel, E. Bottacchi, G. Crenna, A. D'Angelo, S. Di Donato

Research output: Contribution to journalArticlepeer-review

Abstract

Pyruvate and palmitate oxidations by cultured fibroblast suspensions were measured in optimized conditions and proved to be with normal range in the cells from Friedreich's patients. But when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity Km and Vmax were within the normal range in Friedreich's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia but are more likely to be related to membrane abnormalities in Friedreich's cells.

Original languageEnglish
Pages (from-to)239-243
Number of pages5
JournalItalian Journal of Neurological Sciences
Volume1
Issue number3
DOIs
Publication statusPublished - Oct 1979

Keywords

  • Carnitine-acetyltransferase
  • Friedreich's ataxia
  • Glutamate-dehydrogenase
  • Pyruvate-dehydrogenase

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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