JD induced pluripotent stem cell-derived hepatocytes faithfully recapitulate the pathophysiology of familial hypercholesterolemia

Hepatology

Volumn 56, Issue 6, 2012, Pages 2163-2171

  Cayo, Max A ^a   Cai, Jun ^a   Delaforest, Ann ^a   Noto, Fallon K ^a   Nagaoka, Masato ^a   Clark, Brian S ^a   Collery, Ross F ^a   Si Tayeb, Karim ^a   Duncan, Stephen A ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B100; CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MEVINOLIN;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CELL TYPE; CHOLESTEROL METABOLISM; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LIPID METABOLISM; LIVER CELL; MALE; PATHOPHYSIOLOGY; PLURIPOTENT STEM CELL; PRIORITY JOURNAL;

ADOLESCENT; ALLELES; ANTICHOLESTEREMIC AGENTS; APOLIPOPROTEIN B-100; CELL DIFFERENTIATION; CELLS, CULTURED; CHOLESTEROL, LDL; FIBROBLASTS; GENE EXPRESSION REGULATION; GENOME-WIDE ASSOCIATION STUDY; HEPATOCYTES; HUMANS; HYPERCHOLESTEROLEMIA; LIPOPROTEINS, LDL; LOVASTATIN; MALE; MUTATION; PLURIPOTENT STEM CELLS; RECEPTORS, LDL; RNA, MESSENGER; STEROL REGULATORY ELEMENT BINDING PROTEIN 2;

EID: 84870495669     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.25871     Document Type: Article

References (33)

1. Rosamond W, Flegal K, Friday G, Furie K, Go A, Greenlund K, et al. Heart disease and stroke statistics-2007 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Circulation 2007; 115: e69-e171.
2. Cholesterol Treatment Trialists' (CTT) Collaboration, Baigent C, Blackwell L, Emberson J, Holland LE, Reith C, et al. Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170, 000 participants in 26 randomised trials. Lancet 2010; 376: 1670-1681.
3. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466: 707-713.
4. Si-Tayeb K, Noto FK, Nagaoka M, Li J, Battle MA, Duris C, et al. Highly efficient generation of human hepatocyte-like cells from induced pluripotent stem cells. HEPATOLOGY 2010; 51: 297-305.
5. Sullivan GJ, Hay DC, Park IH, Fletcher J, Hannoun Z, Payne CM, et al. Generation of functional human hepatic endoderm from human induced pluripotent stem cells. HEPATOLOGY 2010; 51: 329-335.
6. Song Z, Cai J, Liu Y, Zhao D, Yong J, Duo S, et al. Efficient generation of hepatocyte-like cells from human induced pluripotent stem cells. Cell Res 2009; 19: 1233-1242.
7. Rashid ST, Corbineau S, Hannan N, Marciniak SJ, Miranda E, Alexander G, et al. Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. J Clin Invest 2010; 120: 3127-3136.
8. Soto-Gutierrez A, Tafaleng E, Kelly V, Roy-Chowdhury J, Fox IJ. Modeling and therapy of human liver diseases using induced pluripotent stem cells: how far have we come? HEPATOLOGY 2011; 53: 708-711.
9. Delaforest A, Nagaoka M, Si-Tayeb K, Noto FK, Konopka G, Battle MA, et al. HNF4A is essential for specification of hepatic progenitors from human pluripotent stem cells. Development 2011; 138: 4143-4153.
10. Goldstein JL, Brown MS. The LDL receptor. Arterioscler Thromb Vasc Biol 2009; 29: 431-438.
11. Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47.
12. Sniderman AD, De Graaf J, Couture P, Williams K, Kiss RS, Watts GF. Regulation of plasma LDL: the apoB paradigm. Clin Sci (Lond) 2010; 118: 333-339.
13. Davis CG, Lehrman MA, Russell DW, Anderson RG, Brown MS, Goldstein JL. The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell 1986; 45: 15-24.
14. Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 2007; 318: 1917-1920.
15. Tremblay AJ, Lamarche B, Ruel IL, Hogue JC, Bergeron J, Gagné C, et al. 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.
16. 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.
17. 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.
18. 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.
19. Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, et al. Disease-specific induced pluripotent stem cells. Cell 2008; 134: 877-886.
20. Ebert AD, Yu J, Rose FF Jr, Mattis VB, Lorson CL, Thomson JA, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009; 457: 277-280.
21. Soldner F, Hockemeyer D, Beard C, Gao Q, Bell GW, Cook EG, et al. Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors. Cell 2009; 136: 964-977.
22. Mikkelsen TS, Hanna J, Zhang X, Ku M, Wernig M, Schorderet P, et al. Dissecting direct reprogramming through integrative genomic analysis. Nature 2008; 454: 49-55.
23. Gore A, Li Z, Fung HL, Young JE, Agarwal S, Antosiewicz-Bourget J, et al. Somatic coding mutations in human induced pluripotent stem cells. Nature 2011; 471: 63-67.
24. Mayshar Y, Ben-David U, Lavon N, Biancotti JC, Yakir B, Clark AT, et al. Identification and classification of chromosomal aberrations in human induced pluripotent stem cells. Cell Stem Cell 2010; 7: 521-531.
25. Kim K, Zhao R, Doi A, Ng K, Unternaehrer J, Cahan P, et al. Donor cell type can influence the epigenome and differentiation potential of human induced pluripotent stem cells. Nat Biotechnol 2011; 29: 1117-1119.
26. Kim K, Doi A, Wen B, Ng K, Zhao R, Cahan P, et al. Epigenetic memory in induced pluripotent stem cells. Nature 2010; 467: 285-290.
27. Millar JS, Maugeais C, Ikewaki K, Kolansky DM, Barrett PH, Budreck EC, et al. Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production. Arterioscler Thromb Vasc Biol 2005; 25: 560-565.
28. Hornick CA, Kita T, Hamilton RL, Kane JP, Havel RJ. Secretion of lipoproteins from the liver of normal and Watanabe heritable hyperlipidemic rabbits. Proc Natl Acad Sci U S A 1983; 80: 6096-6100.
29. Thompson GR, Naoumova RP, Watts GF. Role of cholesterol in regulating apolipoprotein B secretion by the liver. J Lipid Res 1996; 37: 439-447.
30. Voora D, Shah SH, Reed CR, Zhai J, Crosslin DR, Messer C, et al. Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response. Circ Cardiovasc Genet 2008; 1: 100-106.
31. Voora D, Shah SH, Spasojevic I, Ali S, Reed CR, Salisbury BA, et al. The SLCO1B1*5 genetic variant is associated with statin-induced side effects. J Am Coll Cardiol 2009; 54: 1609-1616.
32. Yusa K, Rashid ST, Strick-Marchand H, Varela I, Liu PQ, Paschon DE, et al. Targeted gene correction of alpha(1)-antitrypsin deficiency in induced pluripotent stem cells. Nature 2011; 478: 391-394.
33. Hockemeyer D, Wang H, Kiani S, Lai CS, Gao Q, Cassady JP, et al. Genetic engineering of human pluripotent cells using TALE nucleases. Nat Biotechnol 2011; 29: 731-734.