NORMOTRIGLYCERIDEMIC ABETALIPOPROTEINEMIA - ABSENCE OF THE B-100-APOLIPOPROTEIN
NORMOTRIGLYCERIDEMIC ABETALIPOPROTEINEMIA - ABSENCE OF THE B-100-APOLIPOPROTEIN
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DOI：
10.1172/jci110173
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发表时间：
1981-01-01
影响因子：
15.9
通讯作者：
DALAL, KB
中科院分区：
文献类型：
--
作者：
MALLOY, MJ;KANE, JP;DALAL, KB
在先前描述的无β脂蛋白血症的两种遗传形式，即隐性无β脂蛋白血症和纯合子低β脂蛋白血症中，血浆中通常含载脂蛋白B的所有脂蛋白均缺失。本文描述了一种新的疾病，其中正常的低密度脂蛋白和极低密度脂蛋白缺失，但患者肠道可吸收甘油三酯且血浆中存在乳糜微粒。潜在的分子缺陷似乎是肝脏产生的B - 100载脂蛋白选择性缺失。乳糜微粒中的B - 48载脂蛋白未受影响。这两种载脂蛋白B可能受不同的基因控制。低密度脂蛋白可能通常并非来源于乳糜微粒。
In the 2 genetic forms of abetalipoproteinemia described previously, recessive abetalipoproteinemia and homozygous hypobetalipoproteinemia, all lipoproteins that normally contain apolipoprotein B are absent from plasma. A new disorder is described in which normal low density and very low density lipoproteins are absent, but in which triglycerides are absorbed from the patient''s intestine and chylomicrons are present in plasma. The underlying molecular defect appears to be selective deletion of the hepatogenous B-100 apolipoprotein. The B-48 apolipoprotein found in chylomicrons is spared. The 2 species of apolipoprotein B are probably under separate genetic control. Low density lipoproteins may not normally be derived from chylomicrons.