The molecular basis of abetalipoproteinemia
The molecular basis of abetalipoproteinemia
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DOI：
10.1097/00041433-199404000-00003
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发表时间：
1994-01-01
影响因子：
4.4
通讯作者：
Wetterau, John R.
中科院分区：
文献类型：
--
作者：
Gregg, Richard E.;Wetterau, John R.
载脂蛋白血症是一种隐性遗传性疾病，其特征是血浆中几乎不存在载脂蛋白B和含载脂蛋白B的脂蛋白。微粒体甘油三酯转移蛋白(MTP)是一种存在于肝细胞和肠细胞内质网中的脂转移蛋白，已被证明在该病患者的肠细胞中缺失。MTP是一种独特的大亚基和蛋白质二硫键异构酶的异二聚体。已有研究表明，在非血脂蛋白血症中，MTP的缺失是继发于MTP大亚基基因突变的结果。因此，MTP大亚基基因的突变是引起载脂蛋白血症的原因之一，这表明MTP是从肝脏和肠道组装和分泌含载脂蛋白B的脂蛋白所必需的成分。
Abetalipoproteinemia is a recessive genetic disease in humans characterized by the virtual absence of apolipoprotein (apo) B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein (MTP), a resident lipid transfer protein within the endoplasmic reticulum of hepatocytes and enterocytes, has been shown to be absent in enterocytes from subjects with this disease. MTP is a heterodimer of a unique large subunit and protein disulfide isomerase. It has been demonstrated that the absence of MTP in abetalipoproteinemia is secondary to mutations in the gene for the large subunit of MTP. Thus, mutations in the gene for the large subunit of MTP are a cause of abetalipoproteinemia, which indicates that the MTP is a necessary component for the assembly and secretion of apoB-containing lipoproteins from the liver and intestine.