Sjögren-Larsson syndrome: delta 5-and delta 6-fatty acid desaturases in skin fibroblasts.
Cultured skin fibroblasts from two patients with Sjögren-Larsson syndrome (SLS) and from a normal control were analyzed for trienoic and tetraenoic fatty acids. In addition, we assayed desaturation of [1-14C]linoleic acid in cells from four patients and four controls. There was no significant effect of the disease on the composition of polyunsaturated fatty acids or on the rate of linoleic acid desaturation in fibroblasts. The results indicate the presence of delta 5- and delta 6-fatty acid desaturases in cells from SLS patients.
D000328:Adult; D000368:Aged; D002851:Chromatography, High Pressure Liquid; D002855:Chromatography, Thin Layer; D000090943:Delta-5 Fatty Acid Desaturase; D044943:Fatty Acid Desaturases / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology* / Q000473:pathology; D050602:Linoleoyl-CoA Desaturase; D008297:Male; D008875:Middle Aged; D012867:Skin / Q000201:enzymology* / Q000473:pathology
D000090943:Delta-5 Fatty Acid Desaturase; D044943:Fatty Acid Desaturases; D050602:Linoleoyl-CoA Desaturase