Abnormal high density lipoproteins in cerebrotendinous xanthomatosis.
Abnormal high density lipoproteins in cerebrotendinous xanthomatosis.
复制标题
脑腱黄瘤病中的异常高密度脂蛋白。
DOI：
10.1172/jci110376
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发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Lindgren,FT
中科院分区：
文献类型：
--
作者：
Shore,V;Salen,G;Cheng,FW;Forte,T;Shefer,S;Tint,GS;Lindgren,FT
对遗传性疾病脑腱黄瘤病 (CTX) 患者的血浆脂蛋白谱和高密度脂蛋白 (HDL) 进行了表征。在低浓度或低正常浓度血浆胆固醇 (165 +/- 25 mg/dl) 和低密度脂蛋白 (LDL) 存在的情况下，HDL 异常可能会导致动脉粥样硬化形成增加和组织甾醇过度沉积。 CTX 血浆中的平均 HDL-胆固醇浓度为 14.5 +/- 3.2 mg/dl，约为正常值的三分之一。低 HDL 胆固醇反映血浆 HDL 浓度低且脂质成分异常。相对于正常HDL，胆固醇酯较低，游离胆固醇和磷脂基本正常，甘油三酯升高。 CTX 的 HDL 中脱辅基蛋白 (apo) 与总胆固醇的比率比正常值高两到三倍。在CTX HDL中，apoAI与apoAII的比例较高，apoC的比例较低，并且通常较小形式的apoAI相对于其他形式有所增加。电子显微照片中的 HDL 形态和粒径均正常。脂蛋白分布谱和血浆 HDL 组成的异常是由代谢缺陷引起的，这种缺陷尚不清楚，但可能与 CTX 中胆汁酸合成的遗传缺陷有关。因此，HDL 的正常功能（可能包括调节 LDL 胆固醇摄取和清除外周组织中多余的胆固醇）可能在这种疾病中受到显着干扰。
The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis (CTX). Abnormalities in the HDL may contribute to their increased atherogenesis and excessive deposits of tissue sterols in the presence of low or low-normal concentrations of plasma cholesterol (165 +/- 25 mg/dl) and low density lipoproteins (LDL). The mean HDL-cholesterol concentration in the CTX plasmas was 14.5 +/- 3.2 mg/dl, about one-third the normal value. The low HDL-cholesterol reflects a low concentration and an abnormal lipid composition of the plasma HDL. Relative to normal HDL, the cholesteryl esters are low, free cholesterol and phospholipids essentially normal, and triglycerides increased. The ratio of apoprotein (apo) to total cholesterol in the HDL of CTX was two to three times greater than normal. In the CTX HDL, the ratio of apoAI to apoAII was high, the proportion of apoC low, and a normally minor form of apoAI increased relative to other forms. The HDL in electron micrographs appeared normal morphologically and in particle size. The abnormalities in lipoprotein distribution profile and composition of the plasma HDL result from metabolic defects that are not understood but may be linked to the genetic defect in bile acid synthesis in CTX. As a consequence, it is probable that the normal functions of the HDL, possibly including modulation of LDL-cholesterol uptake and the removal of excess cholesterol from peripheral tissues, are perturbed significantly in this disease.Images