Gregg R E, Wetterau J R
Department of Metabolic Diseases, Bristol-Myers Squibb Pharmaceutical Research Institute, Princeton, New Jersey.
Curr Opin Lipidol. 1994 Apr;5(2):81-6. doi: 10.1097/00041433-199404000-00003.
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.
无β脂蛋白血症是一种人类隐性遗传病，其特征是血浆中几乎不存在载脂蛋白（apo）B和含apoB的脂蛋白。微粒体甘油三酯转移蛋白（MTP）是肝细胞和肠细胞内质网中的一种驻留脂质转移蛋白，已证明患有这种疾病的受试者的肠细胞中不存在该蛋白。MTP是一种由独特的大亚基和蛋白质二硫键异构酶组成的异二聚体。已经证明，无β脂蛋白血症中MTP的缺失是由于MTP大亚基基因的突变所致。因此，MTP大亚基基因的突变是无β脂蛋白血症的一个病因，这表明MTP是肝脏和肠道中含apoB脂蛋白组装和分泌的必要成分。
