Packard C J, Third J L, Shepherd J, Lorimer A R, Morgan H G, Lawrie T D
Metabolism. 1976 Sep;25(9):995-1006. doi: 10.1016/0026-0495(76)90129-3.
A low-density lipoprotein turnover study was performed on six heteroxygous familial hypercholesterolemic subjects and five control subjects. The diagnosis of the condition was clear-cut on biochemical, clinical, and genetic grounds. Kinetic analysis of the plasma decay curves gave the following mean values: (1) The plasma concentration of low density lipoprotein apoprotein (apoLDL) in the affected subjects was 247 mg/dl, a 2.5-fold increase over control values (98 mg/dl). (2) The calculated fractional catabolic rate of the intravascular apoLDL pool in the dyslipo-proteniemics was reduced with respect to control data (16.4%/day versus 31.2%/day), and the half-life of the apolipoprotein was correspondingly increased (6.07 days versus 3.63 days). (3) The absolute catabolic rate of the apoLDL was 15.6 mg/kg/day in contrast to the lower value of 11.6 mg/kg/day in the control group. (4) A strong negative correlation was observed between the plasma apoLDL concentration and the fractional catabolic rate (r = 0.96). We conclude from our data that increased apoLDL synthesis coupled with a defective or saturated catabolic mechanism is implicated in the pathogenesis of familial hypercholesterolemia.
对6名杂合子家族性高胆固醇血症患者和5名对照者进行了低密度脂蛋白周转研究。基于生化、临床和遗传学依据，该病症的诊断明确。血浆衰变曲线的动力学分析得出以下平均值：（1）患病受试者中低密度脂蛋白载脂蛋白（apoLDL）的血浆浓度为247mg/dl，比对照值（98mg/dl）增加了2.5倍。（2）与对照数据相比，血脂异常患者血管内apoLDL池的计算分解代谢率降低（分别为16.4%/天和31.2%/天），载脂蛋白的半衰期相应延长（分别为6.07天和3.63天）。（3）apoLDL的绝对分解代谢率为15.6mg/kg/天，而对照组较低，为11.6mg/kg/天。（4）血浆apoLDL浓度与分解代谢率之间存在强负相关（r = 0.96）。我们从数据中得出结论，apoLDL合成增加以及分解代谢机制缺陷或饱和与家族性高胆固醇血症的发病机制有关。
