Abstract
Sjögren–Larsson syndrome (SLS) is an inherited disorder associated with deficient oxidation of long-chain aliphatic alcohols. Previous studies have reported modest elevations in total (free + esterified) fatty alcohols in SLS, but free fatty alcohols have not been selectively measured, in part because of their low concentrations in most tissues and the presence of trace fatty alcohol contaminants in some solvents used for their analysis. We adapted methods to measure free fatty alcohols in cultured cells and plasma that minimize exogenous alcohol contamination. Fatty alcohols were analyzed as acetate derivatives, using capillary column gas chromatography. By this method, cultured skin fibroblasts from SLS patients were found to have 7- and 8-fold elevations in the mean content of hexadecanol (16:0-OH) and octadecanol (18:0-OH), respectively. The mean plasma 16:0-OH and 18:0-OH concentrations in SLS patients (n = 11) were 9- and 22-fold higher than in normal controls, respectively. In SLS fibroblasts, most of the fatty alcohol (59%) that accumulated was free rather than esterified alcohol, whereas free alcohol accounted for 23% of the total alcohol in normal cells.These results indicate that elevations in free fatty alcohols provide a sensitive marker for the enzymatic defect in SLS. The ability to measure free fatty alcohols in cultured cells and plasma should prove useful for investigations of normal fatty alcohol metabolism and the deranged metabolism in SLS.
Highlights
Sjögren–Larsson syndrome (SLS) is an inherited disorder associated with deficient oxidation of long-chain aliphatic alcohols
Measurement of free fatty alcohols in small tissue or cell samples is complicated by the low concentration of these lipids and the presence of trace fatty alcohol contaminants in some solvents used for their analysis
When one 75-cm2 flask of normal cultured fibroblasts (1–2 mg of cell protein) was extracted, contaminating 16:0-OH and 18:0-OH accounted for 24 Ϯ 6% (n ϭ 6) and 34 Ϯ 3%, respectively, of the fatty alcohols measured
Summary
Sjögren–Larsson syndrome (SLS) is an inherited disorder associated with deficient oxidation of long-chain aliphatic alcohols. Fatty alcohols were analyzed as acetate derivatives, using capillary column gas chromatography By this method, cultured skin fibroblasts from SLS patients were found to have 7- and 8-fold elevations in the mean content of hexadecanol (16:0OH) and octadecanol (18:0-OH), respectively. Measurement of free fatty alcohols in small tissue or cell samples is complicated by the low concentration of these lipids and the presence of trace fatty alcohol contaminants in some solvents used for their analysis. Several studies have reported that total (free ϩ esterified) hexadecanol (16:0-OH) and octadecanol (18:0-OH) were increased 2- to 3-fold in plasma of SLS patients [10] and in FALDH-deficient cells [9, 11], but free fatty alcohols were not determined and the possible contribution of alcohol contaminants was not considered. Because of their hydrophobic nature, fatty alcohols readily partition into biological membranes [5, 6] and serve as precursors for the biosynthesis of wax ester lipids and ether glycerolipids [1]
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