Berriot-Varoqueaux N, Aggerbeck L P, Samson-Bouma M
INSERM U. 327, Faculté de Médecine Xavier Bichat, Université de Paris 7-Denis Diderot, BP 416, 75870 Paris Cedex 18, France.
Ann Endocrinol (Paris). 2000 May;61(2):125-9.
Microsomal triglyceride transfer protein (MTP) is a dimeric protein complex consisting of protein disulfide isomerase and a unique 97 kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between vesicles. It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. Downstream effects resulting from this defect, include very low plasma cholesterol and triglyceride levels, absence of plasma apolipoprotein B and a lipid malabsorption syndrome, leading to lipo-soluble vitamin deficiencies. A low fat diet is instituted to eliminate the diarrhea. In addition, a therapy with vitamins A and E is essential to prevent patients from developing secondary effects such as neuropathy, muscle weakness, and retinopathy.
微粒体甘油三酯转运蛋白（MTP）是一种由蛋白二硫键异构酶和一个独特的97 kDa亚基组成的二聚体蛋白复合物。在体外，MTP可加速甘油三酯、胆固醇酯和磷脂在囊泡之间的转运。最近有研究表明，无β脂蛋白血症是一种分别在肠道和肝脏中无法产生乳糜微粒和极低密度脂蛋白的疾病，它是由于MTP基因缺失所致。这种缺陷所导致的下游效应包括血浆胆固醇和甘油三酯水平极低、血浆载脂蛋白B缺失以及脂质吸收不良综合征，进而导致脂溶性维生素缺乏。需采用低脂饮食来消除腹泻。此外，使用维生素A和E进行治疗对于预防患者出现诸如神经病变、肌肉无力和视网膜病变等继发效应至关重要。
