Ghyselinck N B, Båvik C, Sapin V, Mark M, Bonnier D, Hindelang C, Dierich A, Nilsson C B, Håkansson H, Sauvant P, Azaïs-Braesco V, Frasson M, Picaud S, Chambon P
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Collège de France, 67404 Illkirch Cedex.
EMBO J. 1999 Sep 15;18(18):4903-14. doi: 10.1093/emboj/18.18.4903.
The gene encoding cellular retinol (ROL, vitA)-binding protein type I (CRBPI) has been inactivated. Mutant mice fed a vitA-enriched diet are healthy and fertile. They do not present any of the congenital abnormalities related to retinoic acid (RA) deficiency, indicating that CRBPI is not indispensable for RA synthesis. However, CRBPI deficiency results in an approximately 50% reduction of retinyl ester (RE) accumulation in hepatic stellate cells. This reduction is due to a decreased synthesis and a 6-fold faster turnover, which are not related to changes in the levels of RE metabolizing enzymes, but probably reflect an impaired delivery of ROL to lecithin:retinol acyltransferase. CRBPI-null mice fed a vitA-deficient diet for 5 months fully exhaust their RE stores. Thus, CRBPI is indispensable for efficient RE synthesis and storage, and its absence results in a waste of ROL that is asymptomatic in vitA-sufficient animals, but leads to a severe syndrome of vitA deficiency in animals fed a vitA-deficient diet.
编码细胞视黄醇(ROL,维生素A)结合蛋白I型(CRBPI)的基因已失活。喂食富含维生素A饮食的突变小鼠健康且可育。它们没有出现任何与视黄酸(RA)缺乏相关的先天性异常,这表明CRBPI对于RA合成并非不可或缺。然而,CRBPI缺乏导致肝星状细胞中视黄酯(RE)积累减少约50%。这种减少是由于合成减少和周转速度快6倍,这与RE代谢酶水平的变化无关,但可能反映了ROL向卵磷脂:视黄醇酰基转移酶的递送受损。喂食维生素A缺乏饮食5个月的CRBPI基因敲除小鼠会完全耗尽其RE储备。因此,CRBPI对于有效的RE合成和储存是不可或缺的,其缺失会导致ROL的浪费,这在维生素A充足的动物中没有症状,但在喂食维生素A缺乏饮食的动物中会导致严重的维生素A缺乏综合征。