Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

R. J.A. Wanders, C. W.T. van Roermund, M. J.A. van Wijland, J. Heikoop, R. B.H. Schutgens, A. W. Schram, J. M. Tager, H. van den Bosch, B. T. Poll-Thé, J. M. Saudubray, H. W. Moser, A. B. Moser

Research output: Contribution to journalArticle

Abstract

Since very long-chain fatty acids with a chain length of 24 carbons or more are known to accumulate in tissues and body fluids from patients with the cerebro-hepato-renal (Zellweger) syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy and X-linked adrenoleukodystrophy, we studied very long-chain fatty acid oxidation in cultured skin fibroblasts from these patients. In this paper, we report that in accordance with earlier results the first step in the β-oxidation of the very long-chain fatty acid lignoceric acid (C24:0) primarily occurs in peroxisomes in control human skin fibroblasts. Furthermore, it was found that peroxisomal lignoceric acid β-oxidation was strongly deficient in fibroblasts from patients with Zellweger syndrome, infantile Refsum disease, neonatal and X-linked adrenoleukodystrophy, which explains for the accumulation of very long-chain fatty acids in all four disease entities. In Zellweger syndrome, infantile Refsum disease and neonatal adrenoleukodystrophy the impairment in peroxisomal very long-chain fatty acid β-oxidation is probably caused by a strong deficiency of all peroxisomal β-oxidation enzyme proteins due to a deficiency of peroxisomes.

Original languageEnglish (US)
Pages (from-to)255-263
Number of pages9
JournalClinica Chimica Acta
Volume166
Issue number2-3
DOIs
StatePublished - Jul 15 1987

Keywords

  • Adrenoleukodystrophy
  • Peroxisomal β-oxidation
  • Peroxisome
  • Refsum disease
  • Very long-chain fatty acid
  • Zellweger syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

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  • Cite this

    Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., Moser, H. W., & Moser, A. B. (1987). Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders. Clinica Chimica Acta, 166(2-3), 255-263. https://doi.org/10.1016/0009-8981(87)90428-1