The mystery of PCSK9

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 24, Issue 8, 2004, Pages 1337-1339

  Attie, Alan D ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN E; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIVER X RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; MESSENGER RNA; PROPROTEIN CONVERTASE SUBTILISIN KESIN TYPE 9; PROTEINASE K; STEROL; STEROL REGULATORY ELEMENT BINDING PROTEIN; STEROL REGULATORY ELEMENT BINDING PROTEIN 1A; STEROL REGULATORY ELEMENT BINDING PROTEIN 1C; STEROL REGULATORY ELEMENT BINDING PROTEIN 2; STEROL RESPONSIVE ELEMENT CLEAVAGE ACTIVATING PROTEIN; TO 901317; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; VERY LOW DENSITY LIPOPROTEIN;

AGONIST; AUTOSOMAL RECESSIVE INHERITANCE; CELL STRAIN HEPG2; CHOLESTEROL INTAKE; CHOLESTEROL SYNTHESIS; CLEARANCE; EDITORIAL; ENZYME SPECIFICITY; ENZYME SUBSTRATE; GENE CONTROL; GENE EXPRESSION; GENE IDENTIFICATION; GENE INDUCTION; GENE MUTATION; GENE OVEREXPRESSION; GENE REPRESSION; HUMAN; HYPERCHOLESTEROLEMIA; LIPID METABOLISM; LIVER REGENERATION; LYMPHOCYTE; NERVE CELL DIFFERENTIATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECRETION; UPREGULATION; WILD TYPE;

ANIMALS; CCAAT-ENHANCER-BINDING PROTEINS; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; MICE; MICE, TRANSGENIC; RECEPTORS, LDL; SERINE ENDOPEPTIDASES; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; STEROL REGULATORY ELEMENT BINDING PROTEIN 2; STEROLS; TRANSCRIPTION FACTORS;

EID: 3943058237     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.0000137288.82390.04     Document Type: Editorial

References (31)

1. Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154-156.
2. Leren TP. Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Clin Genet. 2004;65:419-422.
3. Timms KM, Wagner S, Samuels ME, Forbey K, Goldfine H, Jammulapati S, Skolnick MH, Hopkins PN, Hunt SC, Shattuck DM. A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet. 2004;114:349-353.
4. Seidah NG, Benjannet S, Wickham L, Marcinkiewicz J, Jasmin SB, Stifani S, Basak A, Prat A, Chretien M. The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation. Proc Natl Acad Sci U S A. 2003;100:928-933.
5. Naureckiene S, Ma L, Sreekumar K, Purandare U, Lo CF, Huang Y, Chiang LW, Grenier JM, Ozenberger BA, Jacobsen JS, Kennedy JD, DiStefano PS, Wood A, Bingham B. Functional characterization of Narc 1, a novel proteinase related to proteinase K. Arch Biochem Biophys. 2003;420:55-67.
6. Maxwell KN, Soccio RE, Duncan EM, Sehayek E, Breslow JL. Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice. J Lipid Res. 2003;44:2109-2119.
7. Shimomura I, Bashmakov Y, Ikemoto S, Horton JD, Brown MS, Goldstein JL. Insulin selectively increases SREBP-1c mRNA in the livers of rats with streptozotocin-induced diabetes. Proc Natl Acad Sci U S A. 1999;96:13656-13661.
8. Repa JJ, Liang G, Ou J, Bashmakov Y, Lobaccaro JM, Shimomura I, Shan B, Brown MS, Goldstein JL, Mangelsdorf DJ. Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterol receptors, LXRα and LXRβ. Genes Dev. 2000;14:2819-2830.
9. Horton JD, Shah NA, Warrington JA, Anderson NN, Park SW, Brown MS, Goldstein JL. Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes. Proc Natl Acad Sci U S A. 2003;100:12027-12032.
10. Maxwell KN, Breslow JL. Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype. Proc Natl Acad Sci U S A. 2004;101:7100-7105.
11. Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001;292:1394-1398.
12. Eden ER, Patel DD, Sun XM, Burden JJ, Themis M, Edwards M, Lee P, Neuwirth C, Naoumova RP, Soutar AK. Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. J Clin Invest. 2002;110:1695-1702.
13. Jones C, Hammer RE, Li WP, Cohen JC, Hobbs HH, Herz J. Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem. 2003;278:29024-29030.
14. Michaely P, Li WP, Anderson RGW, Cohen JC, Hobbs HH. The modular adaptor protein ARH is required for LDL binding and internalization, but not for LDL receptor clustering in coated pits. J Biol Chem. In press.
15. Dubuc G, Chamberland A, Wassef H, Davignon J, Seidah NG, Bernier L, Prat A. Statins upregulate PCSK9, the gene encoding the proprotein convertase NARC-1 implicated in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2004;24:1454-1459.
16. Ma PT, Gil G, Sudhof TC, Bilheimer DW, Goldstein JL, Brown MS. Mevinolin, an inhibitor of cholesterol synthesis, induces mRNA for low density lipoprotein receptor in livers of hamsters and rabbits. Proc Natl Acad Sci U S A. 1986;83:8370-8374.
17. Uauy R, Vega GL, Grundy SM, Bilheimer DM. Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: lack of effect on low-density lipoprotein concentrations or turnover. J Pediatr. 1988;113:387-392.
18. Bilheimer DW, Stone NJ, Grundy SM. Metabolic studies in familial hypercholesterolemia. Evidence for a gene-dosage effect in vivo. J Clin Invest. 1979;64:524-533.
19. Soutar AK, Myant NB, Thompson GR. Simultaneous measurement of apolipoprotein B turnover in very-low- and low-density lipoproteins in familial hypercholesterolaemia. Atherosclerosis. 1977;28:247-256.
20. Soutar AK, Myant NB, Thompson GR. Metabolism of apolipoprotein B-containing lipoproteins in familial hypercholesterolaemia: effects of plasma exchange. Atherosclerosis. 1979;32:315-325.
21. James RW, Martin B, Pometta D, Fruchart JC, Duriez P, Puchois P, Farriaux JP, Tacquet A, Demant T, Clegg RJ, Munro A, Oliver MF, Packard CJ, Shepherd J. Apolipoprotein B metabolism in homozygous familial hypercholesterolemia. J Lipid Res. 1989;30:159-169.
22. Janus ED, Nicoll A, Wootton R, Turner PR, Magill PJ, Lewis B. Quantitative studies of very low density lipoprotein: conversion to low density lipoprotein in normal controls and primary hyperlipidaemic states and the role of direct secretion of low density lipoprotein in heterozygous familial hypercholesterolaemia. Eur J Clin Invest. 1980;10:149-159.
23. Packard CJ, Third JL, Shepherd J, Lorimer AR, Morgan HG, Lawrie TD. Low density lipoprotein metabolism in a family of familial hypercholesterolemic patients. Metabolism. 1976;25:995-1006.
24. Cummings MH, Watts GF, Umpleby M, Hennessy TR, Quiney JR, Sonksen PH. Increased hepatic secretion of very-low-density-lipoprotein apolipoprotein B-100 in heterozygous familial hypercholesterolaemia: a stable isotope study. Atherosclerosis. 1995;113:79-89.
25. Tremblay AJ, Lamarche B, Ruel IL, Hogue JC, Bergeron J, Gagne C, Couture P. Increased production of VLDL apoB-100 in subjects with familial hypercholesterolemia carrying the same null LDL receptor gene mutation. J Lipid Res. 2004;45:866-872.
26. Horton JD, Shimano H, Hamilton RL, Brown MS, Goldstein JL. Disruption of LDL receptor gene in transgenic SREBP-1a mice unmasks hyperlipidemia resulting from production of lipid-rich VLDL. J Clin Invest. 1999;103:1067-1076.
27. Twisk J, Gillian-Daniel DL, Tebon A, Wang L, Barrett PH, Attie AD. The role of the LDL receptor in apolipoprotein B secretion. J Clin Invest. 2000;105:521-532.
28. Jiang XC, Qin S, Qiao C, Kawano K, Lin M, Skold A, Xiao X, Tall AR. Apolipoprotein B secretion and atherosclerosis are decreased in mice with phospholipid-transfer protein deficiency. Nat Med. 2001;7:847-852.
29. Larsson SL, Skogsberg J, Bjokegren J. The low density lipoprotein receptor prevents secretion of dense apoB100-containing lipoproteins from the liver. J Biol Chem. 2004;279:831-836.
30. Millar JS, Maugeais C, Fuki IV, Rader DJ. Normal production rate of apolipoprotein B in LDL receptor-deficient mice. Arterioscler Thromb Vasc Biol. 2002;22:989-994.
31. Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet. 1997;15:91-94.