Tilly-Kiesi Marju, Schaefer Ernst J, Knudsen Petteri, Welty Francine K, Dolnikowski Gregory G, Taskinen Marja-Riitta, Lichtenstein Alice H
Helsinki University Central Hospital, Helsinki, Finland.
Metabolism. 2004 Apr;53(4):520-5. doi: 10.1016/j.metabol.2003.10.020.
A heritable deficiency of hepatic lipase (HL) provides insights into the physiologic function of HL in vivo. The metabolism of apolipoprotein B (apoB)-100 in very-low-density lipoprotein (VLDL), intermediate-density lipoprotein (IDL), and low-density lipoprotein (LDL) and of apoA-I and apoA-II in high-density lipoprotein (HDL) particles lipoprotein (Lp)(AI) and Lp(AI:AII) was assessed in 2 heterozygous males for compound mutations L334F/T383M or L334F/R186H, with 18% and 22% of HL activity, respectively, compared with 6 control males. Subjects were provided with a standard Western diet for a minimum of 3 weeks. At the end of the diet period, apo kinetics was assessed using a primed-constant infusion of [5,5,5-(2)H(3)] leucine. Mean plasma triglyceride (TG) and HDL cholesterol levels were 55% and 12% higher and LDL cholesterol levels 19% lower in the HL patients than control subjects. A higher proportion of apoB-100 was in the VLDL than IDL and LDL fractions of HL patients than control subjects due to a lower VLDL apoB-100 fractional catabolic rate (FCR) (4.63 v 9.38 pools/d, respectively) and higher hepatic production rate (PR) (33.24 v 10.87 mg/kg/d). Delayed FCR of IDL (2.78 and 6.31 pools/d) and LDL (0.128 and 0.205 pools/d) and lower PR of IDL (3.67 and 6.68 mg/kd/d) and LDL 4.57 and 13.07 mg/kg/d) was observed in HL patients relative to control subjects, respectively. ApoA-I FCR (0.09 and 0.13 pools/d) and PR (4.01 and 6.50 mg/kg/d) were slower in Lp(AI:AII) particles of HL patients relative to control subjects, respectively, accounting for the somewhat higher HDL cholesterol levels. HL deficiency may result in a lipoprotein pattern associated with low heart disease risk.
肝脏脂肪酶(HL)的遗传性缺乏为深入了解HL在体内的生理功能提供了线索。在2名分别携带复合突变L334F/T383M或L334F/R186H的杂合男性中评估了极低密度脂蛋白(VLDL)、中间密度脂蛋白(IDL)和低密度脂蛋白(LDL)中载脂蛋白B(apoB)-100以及高密度脂蛋白(HDL)颗粒脂蛋白(Lp)(AI)和Lp(AI:AII)中apoA-I和apoA-II的代谢情况,与6名对照男性相比,他们的HL活性分别为18%和22%。为受试者提供标准西方饮食至少3周。在饮食期结束时,通过[5,5,5-(2)H(3)]亮氨酸的首剂恒速输注评估载脂蛋白动力学。HL患者的平均血浆甘油三酯(TG)和HDL胆固醇水平分别比对照受试者高55%和12%,而LDL胆固醇水平低19%。由于VLDL中apoB-100的分解代谢率(FCR)较低(分别为4.63池/天和9.38池/天)且肝脏生成率(PR)较高(33.24毫克/千克/天和10.87毫克/千克/天),HL患者的VLDL中apoB-100的比例高于IDL和LDL部分。与对照受试者相比,HL患者的IDL(2.78池/天和6.31池/天)和LDL(0.128池/天和0.205池/天)的FCR延迟,IDL(3.67毫克/千克/天和6.68毫克/千克/天)和LDL(4.57毫克/千克/天和13.07毫克/千克/天)的PR较低。与对照受试者相比,HL患者的Lp(AI:AII)颗粒中apoA-I的FCR(0.09池/天和0.13池/天)和PR(4.01毫克/千克/天和6.50毫克/千克/天)较慢,这解释了HDL胆固醇水平略高的原因。HL缺乏可能导致与低心脏病风险相关的脂蛋白模式。