title: Familial hypercholesterolaemia : effect of low density lipoproteins on cholesterol synthesis in lymphocytes from homozygous and heterozygous subjects.
abstract: 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.
mesh_terms: 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*
chemical_list: D008077:Lipoproteins, LDL; D002784:Cholesterol