Traber M G, Sokol R J, Burton G W, Ingold K U, Papas A M, Huffaker J E, Kayden H J
Department of Medicine, New York University School of Medicine, New York 10016.
J Clin Invest. 1990 Feb;85(2):397-407. doi: 10.1172/JCI114452.
Plasma and lipoprotein alpha-tocopherol concentrations of four patients with familial isolated vitamin E deficiency and six control subjects were observed for 4 d after an oral dose (approximately 15 mg) of RRR-alpha-tocopheryl acetate labeled with six deuterium atoms (d6-tocopherol). Chylomicron d6-tocopherol concentrations were similar in the two groups. d6-Tocopherol concentrations of plasma, very low (VLDL), low (LDL), and high (HDL) density lipoproteins were similar in the two groups only during the first 12 h; then these were significantly lower, and the rate of disappearance faster, in the patients. The times (tmax) of the maximum chylomicron d6-tocopherol concentrations were similar for the two groups, but tmax values in the controls increased in the order: chylomicrons less than VLDL less than or equal to LDL approximately HDL, while the corresponding values in the patients were similar to the chylomicron tmax. Thus, plasma d6-tocopherol in controls increased during chylomicron and VLDL catabolism, whereas in patients it increased only during chylomicron catabolism, thereby resulting in a premature and faster decline in the plasma tocopherol concentration due to a lack of d6-tocopherol secretion from the liver. We suggest that these patients are lacking or have a defective liver "tocopherol binding protein" that incorporates alpha-tocopherol into nascent VLDL.
对4例家族性单纯维生素E缺乏患者和6例对照者口服一剂（约15 mg）用6个氘原子标记的RRR-α-生育酚醋酸酯（d6-生育酚）后，观察其血浆和脂蛋白α-生育酚浓度4天。两组乳糜微粒d6-生育酚浓度相似。仅在最初12小时内，两组血浆、极低密度脂蛋白（VLDL）、低密度脂蛋白（LDL）和高密度脂蛋白（HDL）的d6-生育酚浓度相似；此后，患者组这些浓度显著降低，消失速率更快。两组乳糜微粒d6-生育酚浓度达到峰值的时间（tmax）相似，但对照组的tmax值按以下顺序增加：乳糜微粒＜VLDL≤LDL≈HDL，而患者组的相应值与乳糜微粒tmax相似。因此，对照组血浆d6-生育酚在乳糜微粒和VLDL分解代谢过程中增加，而患者组仅在乳糜微粒分解代谢过程中增加，从而由于肝脏缺乏d6-生育酚分泌导致血浆生育酚浓度过早且更快下降。我们认为这些患者缺乏或存在有缺陷的肝脏“生育酚结合蛋白”，该蛋白将α-生育酚整合到新生的VLDL中。
