Park Sahng Wook, Moon Young-Ah, Horton Jay D
Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA.
J Biol Chem. 2004 Nov 26;279(48):50630-8. doi: 10.1074/jbc.M410077200. Epub 2004 Sep 22.
Lipid homeostasis is transcriptionally regulated by three DNA-binding proteins, designated sterol regulatory element-binding protein (SREBP)-1a, -1c, and -2. Oligonucleotide arrays hybridized with RNA made from livers of transgenic SREBP-1a, transgenic SREBP-2, and SREBP cleavage-activating protein knockout mice recently identified 33 genes regulated by SREBPs in liver, four of which had no known connection to lipid metabolism. One of the four genes was PCSK9, which encodes proprotein convertase subtilisin/kexin type 9a, a protein that belongs to the proteinase K subfamily of subtilases. Mutations in PCSK9 are associated with an autosomal dominant form of hypercholesterolemia. Here, we demonstrate that hepatic overexpression of either wild-type or mutant PCSK9 in mice results in hypercholesterolemia. The hypercholesterolemia is due to a post-transcriptional event causing a reduction in low density lipoprotein (LDL) receptor protein prior to the internalization and recycling of the receptor. Overexpression of PCSK9 in primary hepatocytes and in mice lacking the LDL receptor does not alter apolipoprotein B secretion. These data are consistent with PCSK9 affecting plasma LDL cholesterol levels by altering LDL receptor protein levels via a post-transcriptional mechanism.
脂质稳态受三种DNA结合蛋白转录调控,这三种蛋白分别为固醇调节元件结合蛋白(SREBP)-1a、-1c和-2。用转基因SREBP-1a、转基因SREBP-2和SREBP裂解激活蛋白敲除小鼠肝脏提取的RNA杂交的寡核苷酸阵列,最近鉴定出33个肝脏中受SREBPs调控的基因,其中四个与脂质代谢没有已知联系。这四个基因之一是PCSK9,它编码前蛋白转化酶枯草杆菌蛋白酶/kexin 9a型,该蛋白属于枯草杆菌蛋白酶的蛋白酶K亚家族。PCSK9突变与常染色体显性高胆固醇血症有关。在此,我们证明小鼠肝脏中野生型或突变型PCSK9的过表达会导致高胆固醇血症。高胆固醇血症是由转录后事件引起的,该事件导致低密度脂蛋白(LDL)受体蛋白在受体内化和再循环之前减少。PCSK9在原代肝细胞和缺乏LDL受体的小鼠中的过表达不会改变载脂蛋白B的分泌。这些数据与PCSK9通过转录后机制改变LDL受体蛋白水平从而影响血浆LDL胆固醇水平一致。