Adrenoleukodystrophy: very long-chain fatty acid metabolism in fibroblasts.
We studied very long-chain fatty acid (VLFA) metabolism in cultured fibroblasts from patients with adrenoleukodystrophy (ALD). Total hexacosanoate (C26:0) content of ALD fibroblasts was sixfold higher than normal and did not return to normal when cells were grown in lipid-free medium. When normal or ALD fibroblasts were grown in medium containing 10% ALD serum (which is enriched in C26:0), there was no further increase in C26:0 content compared with cells grown in 10% normal human serum. Uptake and loss of 1-14C-palmitate (C16:0) and 1-14C-lignocerate (C24:0) by ALD fibroblasts were similar to normal fibroblasts. Catabolism of exogenous 3H-C26:0 to 3H2O was about 30% of normal. Oxidation of exogenous 1-14C-hexacosanoate, 1-14C-lignocerate, and 1-14C-palmitate in intact ALD fibroblasts was 42%, 27 +/- 13% (SD), and 73 +/- 47%, respectively, of normal. These results are consistent with, but do not conclusively prove, a VLFA oxidation defect in ALD fibroblasts.
D000326:Adrenoleukodystrophy / Q000378:metabolism* / Q000473:pathology; D002478:Cells, Cultured; D003470:Culture Media; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D010168:Palmitates / Q000378:metabolism
D003470:Culture Media; D005227:Fatty Acids; D010168:Palmitates; C010210:lignoceric acid