Friedreich's ataxia in northern Italy. II. Biochemical studies in cultured cells

Can J Neurol Sci. 1980 Nov;7(4):409-12. doi: 10.1017/s0317167100022964.

Abstract

Pyruvate and palmitate oxidations by cultured fibroblasts suspensions were measured in optimized conditions and proved to be within normal range in the cells from Friedreich's patients. However, 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 related to membrane abnormalities in Friedreich's cells.

MeSH terms

  • Carnitine O-Acetyltransferase / metabolism
  • Dihydrolipoamide Dehydrogenase / metabolism
  • Fibroblasts / metabolism
  • Friedreich Ataxia / metabolism*
  • Glutamate Dehydrogenase / metabolism
  • Humans
  • Italy
  • Ketoglutarate Dehydrogenase Complex / metabolism
  • Palmitates / metabolism*
  • Palmitic Acids / metabolism*
  • Pyruvate Dehydrogenase Complex / metabolism
  • Pyruvates / metabolism*

Substances

  • Palmitates
  • Palmitic Acids
  • Pyruvate Dehydrogenase Complex
  • Pyruvates
  • Ketoglutarate Dehydrogenase Complex
  • Glutamate Dehydrogenase
  • Dihydrolipoamide Dehydrogenase
  • Carnitine O-Acetyltransferase