Involvement of microsomal fatty aldehyde dehydrogenase in the α- oxidation of phytanic acid

N. M. Verhoeven, C. Jakobs, G. Carney, M. P. Somers, R. J.A. Wanders, W. B. Rizzo

Research output: Contribution to journalArticle

57 Scopus citations

Abstract

We investigated the role of microsomal fatty aldehyde dehydrogenase (FALDH) in the conversion of pristanal into pristanic acid. Cultured skin fibroblasts from controls and patients with Sjogren-Larsson syndrome (SLS) who are genetically deficient in FALDH activity were incubated with [2,3- 3H]phytanic acid. The release of aqueous-soluble radioactivity by the SLS cells was decreased to 25% of normal, consistent with an intact formation of pristanal but a deficiency of further oxidation. SLS cells also accumulated four-fold more radioactivity in N-alkyl-phosphatidyl ethanolamine, which arises from incorporation of free aldehyde into phosphatidyl ethanolamine. Recombinant human FALDH expressed in Chinese hamster ovary cells readily oxidized pristanal and cultured fibroblasts from SLS patients showed a severe deficiency in FALDH activity (13% of normal) when pristanal was used as substrate. Nevertheless, SLS patients did not accumulate phytanic acid in their plasma. We conclude that FALDH is involved in the oxidation of pristanal to pristanic acid and that this reaction is deficient in patients with SLS.

Original languageEnglish (US)
Pages (from-to)225-228
Number of pages4
JournalFEBS Letters
Volume429
Issue number3
DOIs
StatePublished - Jun 16 1998

Keywords

  • Aldehyde dehydrogenase
  • Peroxisomal disorder
  • Phytanic acid
  • Sjogren-Larsson syndrome

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

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