Verhoeven N M, Jakobs C, Carney G, Somers M P, Wanders R J, Rizzo W B
Department of Clinical Chemistry, Free University Hospital Amsterdam, The Netherlands.
FEBS Lett. 1998 Jun 16;429(3):225-8. doi: 10.1016/s0014-5793(98)00574-2.
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.
我们研究了微粒体脂肪醛脱氢酶（FALDH）在将降植烷醛转化为降植烷酸过程中的作用。将来自对照组以及患有遗传性FALDH活性缺乏的舍格伦-拉尔松综合征（SLS）患者的培养皮肤成纤维细胞与[2,3-(3)H]植烷酸一起孵育。SLS细胞释放的水溶性放射性降低至正常水平的25%，这与降植烷醛的完整形成但进一步氧化缺乏一致。SLS细胞在N-烷基磷脂酰乙醇胺中积累的放射性也多出四倍，这是由于游离醛掺入磷脂酰乙醇胺所致。在中国仓鼠卵巢细胞中表达的重组人FALDH很容易氧化降植烷醛，并且当以降植烷醛为底物时，来自SLS患者的培养成纤维细胞显示出严重的FALDH活性缺乏（为正常水平的13%）。然而，SLS患者血浆中并未积累植烷酸。我们得出结论，FALDH参与降植烷醛氧化为降植烷酸的过程，并且该反应在SLS患者中存在缺陷。
