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Involvement of microsomal fatty aldehyde dehydrogenase in the α‐oxidation of phytanic acid
Author(s) -
Verhoeven N.M.,
Jakobs C.,
Carney G.,
Somers M.P.,
Wanders R.J.A.,
Rizzo W.B.
Publication year - 1998
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(98)00574-2
Subject(s) - phytanic acid , biochemistry , dehydrogenase , microsome , chinese hamster ovary cell , aldehyde dehydrogenase , biology , chemistry , enzyme , peroxisome , receptor , gene
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 Sjögren‐Larsson syndrome (SLS) who are genetically deficient in FALDH activity were incubated with [2,3‐ 3 H]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.