Familial hypercholesterolaemia : effect of low density lipoproteins on cholesterol synthesis in lymphocytes from homozygous and heterozygous subjects.
The effect of low density lipoproteins on cholesterol synthesis was studied in lymphocytes from patients with familial hypercholesterolaemia (10 homozygotes and 11 heterozygotes); results were compared with those obtained using cells from apparently normal individuals. Freshly isolated lymphocytes were maintained in lipoprotein deficient medium for 48 h and the rate of formation of [14C] cholesterol from [14C] acetate then determined in the presence or absence of low density lipoproteins. In the absence of low density lipoproteins, incorporation of [14C] acetate was lower in homozygote cells than in normal lymphocytes; differences between heterozygote and normal cells were not significant. When low density lipoproteins were included, incorporation was considerably reduced in normal cells; in lymphocytes from both homozygotes and heterozygotes results were variable with incorporation being markedly reduced in some cases, but not in others.
D000328:Adult; D002784:Cholesterol / Q000096:biosynthesis* / Q000097:blood; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000378:metabolism*; D008077:Lipoproteins, LDL / Q000494:pharmacology*; D008214:Lymphocytes / Q000378:metabolism*
D008077:Lipoproteins, LDL; D002784:Cholesterol