对载脂蛋白E2（精氨酸158→半胱氨酸）正常胆固醇血症和高胆固醇血症纯合子的血浆脂蛋白谱进行比较。

Plasma lipoprotein profiles of normocholesterolemic and hypercholesterolemic homozygotes for apolipoprotein E2(Arg158-->Cys) compared.

作者信息

Zhao S P, Smelt A H, Van den Maagdenberg A M, Van Tol A, Vroom T F, Gevers Leuven J A, Van der Laarse A, Van 't Hooft F M

机构信息

Department of Cardiology, Medical Faculty, University of Leiden, The Netherlands.

出版信息

Clin Chem. 1994 Aug;40(8):1559-66.

PMID:8044997

Abstract

We compared plasma lipoprotein profiles of 15 individuals with normocholesterolemic (plasma cholesterol 4.81 +/- 0.90 mmol/L) familial dysbetalipoproteinemia (NFD) and 15 patients with hypercholesterolemic (plasma cholesterol 10.61 +/- 2.32 mmol/L) familial dysbetalipoproteinemia (HFD), matched for age and sex. All subjects were homozygous for apoE2(Arg158-->Cys). Compared with 15 normolipidemic controls (plasma cholesterol 5.47 +/- 0.92 mmol/L), subjects with NFD and HFD had greater cholesterol concentrations of large very-low-density lipoprotein (VLDL1), small VLDL (VLDL2), and intermediate-density lipoprotein, each of which was correlated to their plasma total cholesterol concentration. VLDL1 and VLDL2 subfractions were enriched in cholesteryl ester, and plasma cholesteryl ester transfer protein activities were increased in both NFD and HFD; however, absolute changes were larger in HFD than in NFD. Concentrations of low-density lipoprotein cholesterol were lower in HFD (1.89 +/- 0.48 mmol/L) and NFD (1.56 +/- 0.36 mmol/L) than in normolipidemic controls (3.35 +/- 0.73 mmol/L). We conclude that all subjects homozygous for apoE2(Arg158-->Cys) show features of dysbetalipoproteinemia.

摘要

我们比较了15名血浆胆固醇正常（血浆胆固醇4.81±0.90 mmol/L）的家族性异常β脂蛋白血症（NFD）患者与15名血浆胆固醇升高（血浆胆固醇10.61±2.32 mmol/L）的家族性异常β脂蛋白血症（HFD）患者的血浆脂蛋白谱，这些患者在年龄和性别上相匹配。所有受试者均为载脂蛋白E2（Arg158→Cys）纯合子。与15名血脂正常的对照者（血浆胆固醇5.47±0.92 mmol/L）相比，NFD和HFD患者的大极低密度脂蛋白（VLDL1）、小极低密度脂蛋白（VLDL2）和中间密度脂蛋白的胆固醇浓度更高，且每种脂蛋白均与其血浆总胆固醇浓度相关。VLDL1和VLDL2亚组分富含胆固醇酯，NFD和HFD患者的血浆胆固醇酯转运蛋白活性均升高；然而，HFD患者的绝对变化大于NFD患者。HFD（1.89±0.48 mmol/L）和NFD（1.56±0.36 mmol/L）患者的低密度脂蛋白胆固醇浓度低于血脂正常的对照者（3.35±0.73 mmol/L）。我们得出结论，所有载脂蛋白E2（Arg158→Cys）纯合子受试者均表现出异常β脂蛋白血症的特征。