Familial hypercholesterolaemia: esterification of cholesterol in lymphocytes from homozygous and heterozygous subjects.

AbstractA comparative study of the rates of cholesterol esterification in lymphocytes from healthy subjects and patients with familial hypercholesterolaemia (25 heterozygotes and 10 homozygotes) was carried out. Freshly isolated lymphocytes were incubated at 37°C in medium containing lipoprotein-deficient serum and [3H]oleate-albumin conjugate. After 18 h, the lymphocytes were harvested and cholesteryl [3H]oleate was extracted, isolated by thin layer chromatography and quantitated. Incorporation of [3H]oleate into cholesteryloleate was significantly higher in lymphocytes from both heterozygotes and homozygotes than in cells from normal subjects; there was no significant difference between the values for heterozygotes and homozygotes. For all three groups cholesteryloleate formation was dependent on the concentration of lipoprotein-deficient serum in the medium.