Hoshino T, Yamashita S, Sakai N, Matsuzawa Y, Tarui S, Kumasaka K
Rinsho Byori. 1989 Jul;37(7):835-9.
Lipoprotein metabolism was analyzed in a patient with marked hyper-HDL-cholesterolemia. A 50 year old male with no symptom of ischemic heart disease or xanthoma had a serum cholesterol level between 293 and 410 mg/dl, and a markedly elevated, HDL-cholesterol level (160-190 mg/dl). The cholesterol content of ultracentrifugally separated HDL2 was exclusively increased, while it was normal in the HDL3 fraction. Analytical ultracentrifugation and HPLC revealed that HDL particles became remarkably larger than the control and, on the contrary, LDL particles became smaller. LPL and LCAT activities were higher in this case, but H-TGL activity was normal. Agarose gel electrophoresis of lipoproteins showed an abnormal broad band which was located between alpha and pre beta band. Serum levels of apolipoprotein A-I, A-II, C-II, C-III and E were higher, while apolipoprotein B level was slightly lower than the control. Cholesteryl ester transfer protein (CETP) activity was demonstrated to be completely deficient in this case, as determined in 10 microliters serum using [3H] CE-labeled HDL3 as donor and VLDL + LDL fraction as acceptor. Since CETP was considered to catalyze the cholesteryl ester transport from HDL to VLDL and LDL, the deficiency of this activity might be the cause of the marked hyper-HDL-cholesterolemia in this patient.
对一名患有显著高HDL胆固醇血症的患者进行了脂蛋白代谢分析。一名50岁男性，无缺血性心脏病或黄色瘤症状，血清胆固醇水平在293至410mg/dl之间，HDL胆固醇水平显著升高（160 - 190mg/dl）。超速离心分离的HDL2的胆固醇含量仅升高，而HDL3部分的胆固醇含量正常。分析超速离心和HPLC显示，HDL颗粒比对照组明显更大，相反，LDL颗粒更小。在这种情况下，LPL和LCAT活性较高，但H - TGL活性正常。脂蛋白的琼脂糖凝胶电泳显示在α和前β带之间有一条异常宽带。载脂蛋白A - I、A - II、C - II、C - III和E的血清水平较高，而载脂蛋白B水平略低于对照组。使用[3H]CE标记的HDL3作为供体，VLDL + LDL部分作为受体，在10微升血清中测定发现，该患者的胆固醇酯转移蛋白（CETP）活性完全缺乏。由于CETP被认为催化胆固醇酯从HDL转运至VLDL和LDL，这种活性的缺乏可能是该患者显著高HDL胆固醇血症的原因。
