Post-prandial remnant lipoprotein metabolism in autosomal recessive hypercholesterolaemia
Post-prandial remnant lipoprotein metabolism in autosomal recessive hypercholesterolaemia
复制标题
DOI：
10.1111/j.1365-2362.2012.02700.x
复制
发表时间：
2012-10-01
影响因子：
5.5
通讯作者：
Yamagishi, Masakazu
中科院分区：
文献类型：
--
作者：
Tada, Hayato;Kawashiri, Masa-aki;Yamagishi, Masakazu
《欧洲临床研究杂志》2012年；42(10):1094 - 1099
摘要
背景
常染色体隐性高胆固醇血症（ARH）是一种罕见的脂质紊乱疾病，其表型已知比伴有低密度脂蛋白受体基因突变的纯合子家族性高胆固醇血症（FH）更为温和。然而，关于ARH和FH在功能上的差异，特别是在残粒样颗粒（RLP）代谢方面的数据很少。
材料与方法
对1例ARH先证者、4例伴有低密度脂蛋白受体基因突变的杂合子FH患者以及4例正常对照者，在口服脂肪耐量试验（OFTT）摄入奶油（50克/体表面积）后，每隔2小时采血一次，共采血6小时。采用高效液相色谱系统测定血浆脂蛋白和RLP组分。评估包括RLP组分在内的每种脂蛋白的曲线下面积（AUC）。
结果
杂合子FH受试者的甘油三酯（TG）、RLP胆固醇（RLP - C）和RLP甘油三酯（RLP - TG）水平的AUC显著高于对照组（分别为466 ± 71毫克/分升·小时对比303 ± 111毫克/分升·小时，P < 0.05；35 ± 7毫克/分升·小时对比21 ± 8毫克/分升·小时，P < 0.05；124 ± 57毫克/分升·小时对比51 ± 13毫克/分升·小时，P < 0.05）。在此条件下，ARH的这些数值接近对照组（分别为310毫克/分升·小时、22毫克/分升·小时、23毫克/分升·小时）。
结论
这些数据表明，与FH不同，ARH中RLP的清除得以保留。餐后RLP清除的保留可能是ARH相较于FH表型更为温和的原因。
Eur J Clin Invest 2012; 42 (10): 10941099 Abstract Background Phenotype of autosomal recessive hypercholesterolaemia (ARH), a rare lipid disorder, is known to be milder than that of homozygous familial hypercholesterolaemia (FH) with LDL receptor gene mutation. However, few data exist regarding the functional differences in ARH and FH particularly in terms of remnant-like particles (RLP) metabolism. Materials and methods Blood sampling was performed up to 6 h after OFTT cream loading (50 g/body surface area) with 2-h intervals in a single ARH proband, four heterozygous FH patients with LDL receptor gene mutation and four normal controls. Plasma lipoprotein and RLP fraction were determined by HPLC system. The area under curve (AUC) of each lipoprotein including RLP fractions was evaluated. Results The AUC of TG, RLP cholesterol (RLP-C) and RLP triglyceride (RLP-TG) levels of heterozygous FH subjects was significantly higher than those of controls (466 +/- 71 mg/dL x h vs. 303 +/- 111 mg/dL x h, P < 0.05; 35 +/- 7 mg/dL x h vs. 21 +/- 8 mg/dL x h, P < 0.05; 124 +/- 57 mg/dL x h vs. 51 +/- 13 mg/dLxh, P < 0.05, respectively). Under these conditions, those values of ARH were close to those of controls (310 mg/dL x h, 22 mg/dL x h, 23 mg/dL x h, respectively). Conclusion These data demonstrate that unlike in FH, RLP clearance is preserved in ARH. The preservation of post-prandial RLP clearance may contribute to the mild phenotype of ARH compared with FH.