Glickman R M, Green P H, Lees R S, Lux S E, Kilgore A
Gastroenterology. 1979 Feb;76(2):288-92.
During fat absorption, active synthesis of cholesterol, phospholipids, and specific apolipoproteins are required for chylomicron formation and secretion. In the inherited disease abetalipoproteinema, chylomicrons cannot be made in response to fat feeding, and they as well as low and very low density lipoproteins are completely absent from plasma. The genetic defect in the disease is presumed to be an inability to synthesize apolipoprotein B, the apoprotein common to all the above lipoprotein classes, but such a defect has not been directly demonstrated. With peroral intestinal biopsies and immunofluorescence and intracellular localization of apolipoprotein B within jejunal epithelial cells of five normal subjects and have shown that its content increases markedly after fat feeding. In two patients with abetalipoproteinemia no apolipoprotein B was seen by immunofluorescence techniques in the jejunal mucosa in the fasting state or after a fatty meal. Intestinal synthesis of apolipoprotein B appears not to occur in abetalipoproteinemia.
在脂肪吸收过程中，乳糜微粒的形成和分泌需要胆固醇、磷脂和特定载脂蛋白的活跃合成。在遗传性疾病无β脂蛋白血症中，进食脂肪后无法生成乳糜微粒，血浆中也完全没有乳糜微粒以及低密度和极低密度脂蛋白。该病的遗传缺陷被推测为无法合成载脂蛋白B，载脂蛋白B是上述所有脂蛋白类别的共同载脂蛋白，但这种缺陷尚未得到直接证实。对五名正常受试者进行经口肠道活检、免疫荧光检测以及载脂蛋白B在空肠上皮细胞内的定位，结果显示进食脂肪后其含量显著增加。在两名无β脂蛋白血症患者中，无论是空腹状态还是进食脂肪餐后，通过免疫荧光技术在空肠黏膜中均未发现载脂蛋白B。无β脂蛋白血症患者似乎无法进行载脂蛋白B的肠道合成。
