The Zellweger syndrome: deficient chain-shortening of erucic acid (22:1 (n-9)) and adrenic acid (22:4 (n-6)) in cultured skin fibroblasts.
In the Zellweger syndrome where peroxisomes are absent, extremely long fatty acids (24:0 and 26:0) accumulate in tissues suggesting that these fatty acids are normally beta-oxidized in the peroxisomes. Previous studies with rat hepatocytes suggest that peroxisomes are also important in oxidation of C22 unsaturated fatty acids. This study shows that cultured fibroblasts from normal human controls shorten [14-14C]erucic acid (22:1(n-9)) to oleic acid (18:1(n-9)) efficiently while Zellweger fibroblasts are deficient in chain-shortening. [2-14C]Adrenic acid (22:4(n-6)) is oxidized in control fibroblasts probably by chain-shortening to arachidonic acid (20:4(n-6)). Only a little adrenic acid is oxidized in Zellweger fibroblasts. Linolenic acid (18:3(n-3)) is desaturated and chain-elongated in both control and Zellweger fibroblasts. The results support the view that peroxisomes play a normal physiological role in the shortening of C22 unsaturated fatty acids and that this function is deficient in Zellweger fibroblasts.
Christensen
E
E
Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, Norway.
Hagve
T A
TA
Christophersen
B O
BO
D002478:Cells, Cultured; D004883:Erucic Acids / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism; D005229:Fatty Acids, Monounsaturated / Q000378:metabolism*; D005231:Fatty Acids, Unsaturated; D006801:Humans; D066298:In Vitro Techniques; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D008830:Microbodies / Q000378:metabolism*; D010084:Oxidation-Reduction; D013577:Syndrome
D004883:Erucic Acids; D005227:Fatty Acids; D005229:Fatty Acids, Monounsaturated; D005231:Fatty Acids, Unsaturated; C049811:erucic acid; C011395:adrenic acid