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Inactivating mutations in NPC1L1 and protection from coronary heart disease.NPC1L1基因的失活突变与冠心病防护
N Engl J Med. 2014 Nov 27;371(22):2072-82. doi: 10.1056/NEJMoa1405386. Epub 2014 Nov 12.
2
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.亲历前蛋白转化酶枯草溶菌素9的探索历程:从家族性高胆固醇血症中一种新基因的发现到一类潜在新型抗胆固醇药物的诞生
Curr Atheroscler Rep. 2014 Sep;16(9):439. doi: 10.1007/s11883-014-0439-8.
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Deaths: leading causes for 2010.死亡:2010年的主要死因。
Natl Vital Stat Rep. 2013 Dec 20;62(6):1-96.
4
Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia.PCSK9 单克隆抗体 AMG 145 对家族性高胆固醇血症纯合子患者的疗效。
Circulation. 2013 Nov 5;128(19):2113-20. doi: 10.1161/CIRCULATIONAHA.113.004678. Epub 2013 Sep 6.
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Mechanisms and cellular functions of intramembrane proteases.膜内蛋白酶的作用机制及细胞功能
Biochim Biophys Acta. 2013 Dec;1828(12):2797-800. doi: 10.1016/j.bbamem.2013.07.001. Epub 2013 Jul 4.
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Combating the epidemic of heart disease.抗击心脏病疫情
JAMA. 2012 Dec 26;308(24):2624-5. doi: 10.1001/jama.2012.164971.
7
Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C with PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD) randomized trial.载脂蛋白 B 代谢物单克隆抗体 AMG 145 降低杂合子家族性高胆固醇血症患者低密度脂蛋白胆固醇的作用:载脂蛋白 B 代谢物单克隆抗体 AMG 145 降低杂合子家族性高胆固醇血症患者低密度脂蛋白胆固醇的随机试验(RUTHERFORD)
Circulation. 2012 Nov 13;126(20):2408-17. doi: 10.1161/CIRCULATIONAHA.112.144055. Epub 2012 Nov 5.
8
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.低密度脂蛋白受体基因家族性高胆固醇血症变异数据库:更新与病理评估
Ann Hum Genet. 2012 Sep;76(5):387-401. doi: 10.1111/j.1469-1809.2012.00724.x.
9
The effects of lowering LDL cholesterol with statin therapy in people at low risk of vascular disease: meta-analysis of individual data from 27 randomised trials.他汀类药物降低 LDL 胆固醇对低血管疾病风险人群的影响:27 项随机试验个体数据的荟萃分析。
Lancet. 2012 Aug 11;380(9841):581-90. doi: 10.1016/S0140-6736(12)60367-5. Epub 2012 May 17.
10
PCSK9 inhibition: the next statin?前蛋白转化酶枯草溶菌素9(PCSK9)抑制剂:下一种他汀类药物?
J Am Coll Cardiol. 2012 Jun 19;59(25):2354-5. doi: 10.1016/j.jacc.2012.03.011. Epub 2012 Mar 31.

胆固醇与冠心病的百年历程:从斑块到基因再到他汀类药物

A century of cholesterol and coronaries: from plaques to genes to statins.

作者信息

Goldstein Joseph L, Brown Michael S

机构信息

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

出版信息

Cell. 2015 Mar 26;161(1):161-172. doi: 10.1016/j.cell.2015.01.036.

DOI:10.1016/j.cell.2015.01.036
PMID:25815993
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4525717/
Abstract

One-fourth of all deaths in industrialized countries result from coronary heart disease. A century of research has revealed the essential causative agent: cholesterol-carrying low-density lipoprotein (LDL). LDL is controlled by specific receptors (LDLRs) in liver that remove it from blood. Mutations that eliminate LDLRs raise LDL and cause heart attacks in childhood, whereas mutations that raise LDLRs reduce LDL and diminish heart attacks. If we are to eliminate coronary disease, lowering LDL should be the primary goal. Effective means to achieve this goal are currently available. The key questions are: who to treat, when to treat, and how long to treat.

摘要

在工业化国家,四分之一的死亡是由冠心病导致的。一个世纪的研究已揭示出其主要致病因素:携带胆固醇的低密度脂蛋白(LDL)。LDL由肝脏中的特定受体(LDLR)控制,这些受体可将其从血液中清除。消除LDLR的突变会使LDL升高,并在儿童期引发心脏病发作,而增加LDLR的突变则会降低LDL并减少心脏病发作。如果我们要消除冠心病,降低LDL应是首要目标。目前已有实现这一目标的有效方法。关键问题是:治疗谁、何时治疗以及治疗多久。