Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias

Journal of Clinical Investigation

Volumn 123, Issue 1, 2013, Pages 84-91

  Priori, Silvia G ^a,b,c   Napolitano, Carlo ^a,c   Di Pasquale, Elisa ^d,e   Condorelli, Gianluigi ^d,e  

^a IRCCS   (Italy)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PAVIA   (Italy)

^d HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^e Milan Unit   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DANTROLENE; ROSCOVITINE;

CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CELL DIFFERENTIATION; CELL LINEAGE; CELL ULTRASTRUCTURE; CULTURE MEDIUM; DISEASE MODEL; EMBRYO CELL; EXPERIMENTAL MODEL; HEART ARRHYTHMIA; HEART DEVELOPMENT; HEART MUSCLE CELL; HEART MUSCLE POTENTIAL; HUMAN; LONG QT SYNDROME; NONHUMAN; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; REVIEW; SOMATIC CELL;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; ARRHYTHMIAS, CARDIAC; CELL DIFFERENTIATION; GENETIC DISEASES, INBORN; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MYOCYTES, CARDIAC;

EID: 84873821513     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI62838     Document Type: Review

References (46)

1. Cerrone M, Napolitano C, Priori SG. Genetics of ion-channel disorders. Curr Opin Cardiol. 2012;27(3): 242-252.
2. Liu GX, et al. Differential conditions for early afterdepolarizations and triggered activity in cardiomyocytes derived from transgenic LQT1 and LQT2 rabbits. J Physiol. 2012;590(pt 5): 1171-1180.
3. Tamargo J, Caballero R, Núñez L, Gómez R, Vaquero M, Delpón E. Genetically engineered mice as a model for studying cardiac arrhythmias. Front Biosci. 2007;12: 22-38.
4. Cerrone M, et al. Bidirectional ventricular tachy cardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. Circ Res. 2005;96(10):e77-e82.
5. Rizzi N, et al. Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model. Circ Res. 2008;103(3): 298-306.
6. Tomas M, et al. Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the Long QT Syndrome. J Am Coll Cardiol. 2010;55(24): 2745-2752.
7. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999;99(4): 529-533.
8. Davis RP, van den Berg CW, Casini S, Braam SR, Mummery CL. Pluripotent stem cell models of cardiac disease and their implication for drug discovery and development. Trends Mol Med. 2011;17(9): 475-484.
9. Jaenisch R, Young R. Stem cells, the molecular circuitry of pluripotency and nuclear reprogramming. Cell. 2008;132(4): 567-582.
10. Evans MJ, Kaufman MH. Establishment in culture of pluripotential cells from mouse embryos. Nature. 1981;292(5819): 154-156.
11. Thomson JA, et al. Embryonic stem cell lines derived from human blastocysts. Science. 1998; 282(5391): 1145-1147.
12. Gurdon JB. The transplantation of nuclei between two species of Xenopus. Dev Biol. 1962;5: 68-83.
13. Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;126(4): 663-676.
14. Takahashi K, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007;131(5): 861-872.
15. Kehat I, et al. Human embryonic stem cells can differentiate into myocytes with structural and functional properties of cardiomyocytes. J Clin Invest. 2001;108(3): 407-414.
16. Zwi L, et al. Cardiomyocyte differentiation of human induced pluripotent stem cells. Circulation. 2009;120(15): 1513-1523.
17. Yang L, et al. Human cardiovascular progenitor cells develop from a KDR+ embryonic-stem-cell-derived population. Nature. 2008;453(7194): 524-528.
18. Laflamme MA, et al. Cardiomyocytes derived from human embryonic stem cells in pro-survival factors enhance function of infarcted rat hearts. Nat Biotechnol. 2007;25(9): 1015-1024.
19. Soldner F, et al. Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell. 2011;146(2): 318-331.
20. Liu GH, et al. Targeted gene correction of laminopathy- associated LMNA mutations in patientspecific iPSCs. Cell Stem Cell. 2011;8(6): 688-694.
21. Boukens BJ, Christoffels VM, Coronel R, Moorman AF. Developmental basis for electrophysiological heterogeneity in the ventricular and outflow tract myocardium as a substrate for life-threatening ventricular arrhythmias. Circ Res. 2009;104(1): 19-31.
22. Antzelevitch C. Transmural dispersion of repolarization and the T wave. Cardiovasc Res. 2001; 50(3): 426-431.
23. Janse MJ, Coronel R, Opthof T, Sosunov EA, Anyukhovsky EP, Rosen MR. Repolarization gradients in the intact heart: Transmural or apico-basal? Prog Biophys Mol Biol. 2012;109(1-2): 6-15.
24. de Jong F, et al. Persisting zones of slow impulse conduction in developing chicken hearts. Circ Res. 1992;71(2): 240-250.
25. Zhang J, et al. Functional cardiomyocytes derived from human induced pluripotent stem cells. Circ Res. 2009;104(4):e30-e41.
26. Malan D, Friedrichs S, Fleischmann BK, Sasse P. Cardiomyocytes obtained from induced pluripotent stem cells with long-QT syndrome 3 recapitulate typical disease-specific features in vitro. Circ Res. 2011;109(8): 841-847.
27. Zhu WZ, Xie Y, Moyes KW, Gold JD, Askari B, Laflamme MA. Neuregulin/ErbB signaling regulates cardiac subtype specification in differentiating human embryonic stem cells. Circ Res. 2010;107(6): 776-786.
28. Gherghiceanu M, et al. Cardiomyocytes derived from human embryonic and induced pluripotent stem cells: comparative ultrastructure. J Cell Mol Med. 2011;15(11): 2539-2551.
29. Kehat I, Gepstein A, Spira A, Itskovitz-Eldor J, Gepstein L. High-resolution electrophysiological assessment of human embryonic stem cell-derived cardiomyocytes: a novel in vitro model for the study of conduction. Circ Res. 2002;91(8): 659-661.
30. Napolitano C. Genetic testing of inherited arrhythmias. Pediatr Cardiol. 2012;33(6): 980-987.
31. Moretti A, et al. Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N Engl J Med. 2010;363(15): 1397-1409.
32. Marban E. Cardiac channelopathies. Nature. 2002;415(6868): 213-218.
33. Itzhaki I, et al. Modelling the long QT syndrome with induced pluripotent stem cells. Nature. 2011;471(7337): 225-229.
34. Lahti AL, et al. Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. Dis Model Mech. 2011;5(2): 220-230.
35. Matsa E, et al. Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. Eur Heart J. 2011;32(8): 952-962.
36. Yazawa M, et al. Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature. 2011;471(7337): 230-234.
37. Splawski I, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119(1): 19-31.
38. Priori SG, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002; 106(1): 69-74.
39. Liu N, et al. Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. Circ Res. 2006;99(3): 292-298.
40. Fatima A, et al. In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells. Cell Physiol Biochem. 2011;28(4): 579-592.
41. Jung CB, et al. Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol Med. 2012;4(3): 180-191.
42. Kobayashi S, et al. Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model. Circ J. 2010;74(12): 2579-2584.
43. Novak A, et al. Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to beta-adrenergic stimulation. J Cell Mol Med. 2012;16(3): 468-482.
44. Lahat H, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet. 2001;69(6): 1378-1384.
45. Knollmann BC, et al. Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2006;116(9): 2510-2520.
46. Ma J, et al. High purity human-induced pluripotent stem cell-derived cardiomyocytes: electrophysiological properties of action potentials and ionic currents. Am J Physiol Heart Circ Physiol. 2011;301(5):H2006-H2017.