Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.
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DOI：
10.1126/science.1439810
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发表时间：
1992-11
期刊：
影响因子：
56.9
通讯作者：
J. Wetterau;L. Aggerbeck;M. Bouma;C. Eisenberg;A. Munck;M. Hermier;J. Schmitz;G. Gay;D. Rader
中科院分区：
文献类型：
--
作者：
J. Wetterau;L. Aggerbeck;M. Bouma;C. Eisenberg;A. Munck;M. Hermier;J. Schmitz;G. Gay;D. Rader
脂蛋白血症是一种人类遗传性疾病，其特征是血浆极低密度脂蛋白和乳糜粒的组装或分泌缺陷。微体甘油三酯转移蛋白(MTP)位于从肝脏和肠道分离的微体的管腔中，被认为在脂蛋白组装中起作用。8名对照个体的肠道活检样本中存在MTP活性和MTP的88千道尔顿成分，而在4名非血脂蛋白血症患者中则不存在。这一发现表明，MTP的缺陷是脂蛋白血症的基础，MTP确实是脂蛋白组装所必需的。
Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the assembly or secretion of plasma very low density lipoproteins and chylomicrons. The microsomal triglyceride transfer protein (MTP), which is located in the lumen of microsomes isolated from the liver and intestine, has been proposed to function in lipoprotein assembly. MTP activity and the 88-kilodalton component of MTP were present in intestinal biopsy samples from eight control individuals but were absent in four abetalipoproteinemic subjects. This finding suggests that a defect in MTP is the basis for abetalipoproteinemia and that MTP is indeed required for lipoprotein assembly.