Demonstration of intact intracellular cholesterol esterification and normal low-density lipoprotein pathway in fibroblasts from a patient with lecithin:cholesterol acyltransferase deficiency.
There was a 6-46-fold increase in intracellular cholesterol esterification in response to 25-hydroxycholesterol and low-density lipoproteins in normal and lecithin:cholesterol acyltransferase-deficient fibroblasts. Uptake and degradation of 125I-labelled low-density lipoproteins were similar in the two cell lines. Low-density lipoproteins caused a doubling of the mass of cholesteryl ester in the mutant cells. These findings indicate that: (a) acyl-CoA:cholesterol acyltransferase exhibits normal activity in mutant cells; (b) lecithin:cholesterol acyltransferase and acyl-CoA:cholesterol acyltransferase are different enzymes and are probably not products of the same gene; (c) the low-density lipoprotein-pathway is intact in fibroblasts from a patient with lecithin:cholesterol acyltransferase deficiency; (d) acyl-CoA:cholesterol acyltransferase is probably responsible for the small amount of cholesteryl ester found in plasma from patients with lecithin:cholesterol acyltransferase deficiency.
D002460:Cell Line; D002788:Cholesterol Esters / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D006888:Hydroxycholesterols / Q000494:pharmacology; D007009:Hypolipoproteinemias / Q000378:metabolism*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000378:metabolism*; D008077:Lipoproteins, LDL / Q000378:metabolism*; D002785:Sterol O-Acyltransferase / Q000378:metabolism
D002788:Cholesterol Esters; D006888:Hydroxycholesterols; D008077:Lipoproteins, LDL; C007997:25-hydroxycholesterol; D002785:Sterol O-Acyltransferase