Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

Biochem Biophys Res Commun. 1988 Jun 16;153(2):618-24. doi: 10.1016/s0006-291x(88)81140-9.

Abstract

A method was developed to prepare peroxisome-enriched fractions depleted of microsomes and mitochondria from cultured skin fibroblasts. The method consists of differential centrifugation of a postnuclear supernatant followed by density gradient centrifugation on a discontinuous Metrizamide gradient. The activity of hexacosanoyl-CoA synthetase was subsequently measured in postnuclear supernatants and peroxisome-enriched fractions prepared from cultured skin fibroblasts from control subjects and patients with X-linked adrenoleukodystrophy. Whereas the hexacosanoyl-CoA synthetase activity in postnuclear supernatants of X-linked adrenoleukodystrophy fibroblasts was only slightly decreased (77.8 +/- 4.4% of control (n = 15], enzyme activity was found to be much more markedly reduced in peroxisomal fractions isolated from the mutant fibroblasts (19.6 +/- 6.7% of control (n = 5]. This is a direct demonstration that the defect in X-linked adrenoleukodystrophy is at the level of a deficient ability of peroxisomes to activate very long chain fatty acids, as first suggested by Hashmi et al. [Hashmi, M., Stanley, W. and Singh, I. (1986) FEBS Lett. 86, 247-250].

MeSH terms

  • Adrenoleukodystrophy / metabolism*
  • Catalase / metabolism
  • Cell Fractionation
  • Cells, Cultured
  • Centrifugation, Density Gradient
  • Diffuse Cerebral Sclerosis of Schilder / metabolism*
  • Fatty Acid Synthases / metabolism
  • Fatty Acids / metabolism*
  • Humans
  • Microbodies / metabolism*
  • Microsomes / metabolism
  • Mitochondria / metabolism
  • Skin / enzymology

Substances

  • Fatty Acids
  • hexacosanoic acid
  • Catalase
  • Fatty Acid Synthases