Assmann G, Smootz E
Eur J Clin Invest. 1978 Jun;8(3):131-5. doi: 10.1111/j.1365-2362.1978.tb00825.x.
High density lipoprotein (HDL) infusion and partial plasma exchange were undertaken in two patients homozygous for Tangier disease. Serum samples and ultracentrifugally isolated serum fractions were analysed over a period of 7 days post infusion by agarose electrophoresis, two-dimensional immunoelectrophoresis (employing antibodies to HDL, HDL3, Apoprotein A-I, and Apoprotein A-II), Apoprotein A radioimmunoassay, and analytical polyacrylamide electrophoresis. The following observations were made: (a) immediately after HDL substitution the broad-beta band, normally visible upon agarose electrophoresis of Tangier plasma, resolved into a distinct beta and pre-beta band; (b)as HDL was catabolized, an abnormal alpha-migrating lipoprotein was generated which contained Apoprotein A-II as protein constituent; and (c) there was a proferential loss of Apoprotein A-I from HDL and the plasma compartment in the course of HDL catabolism. The results suggest that the defect in Tangier disease resides with enhanced catabolism or defective synthesis of Apoprotein A-I.
对两名患有丹吉尔病的纯合子患者进行了高密度脂蛋白（HDL）输注和部分血浆置换。在输注后7天内，通过琼脂糖电泳、二维免疫电泳（使用针对HDL、HDL3、载脂蛋白A-I和载脂蛋白A-II的抗体）、载脂蛋白A放射免疫测定和分析性聚丙烯酰胺电泳对血清样本和超速离心分离的血清组分进行了分析。得出以下观察结果：（a）HDL替代后，丹吉尔病血浆琼脂糖电泳中通常可见的宽β带立即分解为明显的β带和前β带；（b）随着HDL的分解代谢，产生了一种异常的α迁移脂蛋白，其蛋白质成分包含载脂蛋白A-II；（c）在HDL分解代谢过程中，载脂蛋白A-I从HDL和血浆区室中优先丢失。结果表明，丹吉尔病的缺陷在于载脂蛋白A-I的分解代谢增强或合成缺陷。
