Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human

Journal of Clinical Investigation

Volumn 111, Issue 6, 2003, Pages 869-876

  Haghighi, Kobra ^a   Kolokathis, Fotis ^b   Pater, Luke ^a   Lynch, Roy A ^a   Asahi, Michio ^c   Gramolini, Anthony O ^c   Fan, Guo Chang ^a   Tsiapras, Dimitris ^b   Hahn, Harvey S ^a   Adamopoulos, Stamatis ^b   Liggett, Stephen B ^a   Dorn II, Gerald W ^a   MacLennan, David H ^c   Kremastinos, Dimitrios T ^b   Kranias, Evangelia G ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b ONASSIS CARDIAC SURGERY CENTER   (Greece)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); LEUCINE; PHOSPHOLAMBAN; PLN PROTEIN; PROTEIN; UNCLASSIFIED DRUG; CALCIUM; CALCIUM BINDING PROTEIN;

ADULT; ANIMAL CELL; ANIMAL MODEL; ARTICLE; CALCIUM TRANSPORT; CELL MEMBRANE; CODON; CONTROLLED STUDY; CYTOSOL; GENE; GENE DISRUPTION; GENE MUTATION; HEART DILATATION; HEART FAILURE; HEART FUNCTION; HEART MUSCLE CELL; HEART TRANSPLANTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PHENOTYPE; PLN GENE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; SARCOPLASMIC RETICULUM; ANIMAL; CELL LINE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DISEASE MODEL; GENETICS; METABOLISM; MOUSE; MUTATION; PEDIGREE; PHYSIOLOGY; SPECIES DIFFERENCE; SPRAGUE DAWLEY RAT;

ANIMALS; CALCIUM; CALCIUM-BINDING PROTEINS; CARDIOMYOPATHY, DILATED; CELL LINE; DISEASE MODELS, ANIMAL; HEART FAILURE, CONGESTIVE; HUMANS; MALE; MICE; MUTATION; PEDIGREE; RATS; RATS, SPRAGUE-DAWLEY; SARCOPLASMIC RETICULUM; SPECIES SPECIFICITY;

EID: 85047687537     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI17892     Document Type: Article

References (39)

1. Cohn, J.N. 1997. Current concepts in the treatment of congestive heart failure. Cardiology. 88(Suppl. 2):2-6.
2. Ho, K.K., Pinsky, J.L., Kannel, W.B., and Levy, D. 1993. The epidemiology of heart failure: the Framingham Study. J. Am. Coll. Cardiol. 22:6A-13A.
3. Hasenfuss, G. 1998. Alterations of calcium-regulatory proteins in heart failure. Cardiovasc. Res. 37:279-289.
4. Beuckelmann, D.J., Nabauer, M., and Erdmann, E. 1992. Intracellular calcium handling in isolated ventricular myocytes from patients with terminal heart failure. Circulation. 85:1046-1055.
5. Endo, M. 1977. Calcium release from the sarcoplasmic reticulum. Physiol. Rev. 57:71-108.
6. Brittsan, A.G., and Kranias, E.G. 2000. Phospholamban and cardiac concractile function. J. Mol. Cell. Cardiol. 32:2131-2139.
7. Meyer, M., et al. 1995. Alterations of sarcoplasmic reticulum proteins in failing human dilated cardiomyopathy. Circulation. 92:778-784.
8. Haghighi, K., et al. 2001. Superinhibition of sarcoplasmic reticulum function by phospholamban induces cardiac contractile failure. J. Biol. Chem. 276:4145-24152.
9. 2+ uptake as a primary cause of heart failure. Cardiovasc. Res. 56:248-259.
10. Hoshijima, M., et al. 2002. Chronic suppression of heart-failure progression by a pseudophosphorylated mutant of phospholamban via in vivo cardiac rAAV gene delivery. Nat. Med. 8:864-871.
11. Luo, W., et al. 1994. Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation. Circ. Res. 75:401-409.
12. Hoit, B.D., Khoury, S.F., Kranias, E.G., Ball, N., and Walsh, R.A. 1995. In vivo echocardiographic detection of enhanced left ventricular function in gene-targeted mice with phospholamban deficiency. Circ. Res. 77:632-637.
13. Slack, J.P., et al. 2001. The enhanced contractility of the phospholamban-deficient mouse heart persists with aging. J. Mol. Cell. Cardiol. 33:1031-1040.
14. Desai, K.H., Schauble, E., Luo, W., Kranias, E., and Bernstein, D. 1999. Phospholamban deficiency does not compromise exercise capacity. Am. J. Physiol. 276:H1172-H1177.
15. Cohn, J.N., et al. 1984. Plasma norepinephrine as a guide to prognosis in patients with chronic congestive heart failure. N. Engl. J. Med. 311:819-823.
16. Bristow, M.R., Shakar, S.F., Linseman, J.V., and Lowes, B.D. 2001. Inotropes and beta-blockers: is there a need for new guidelines? J. Card. Fail. 7:8-12.
17. Franz, W.M., Muller, O.J., and Katus, H.A. 2001. Cardiomyopathies: from genetics to the prospect of treatment. Lancet. 358:1627-1637.
18. McTiernan, C.F., et al. 1999. The human phospholamban gene: structure and expression. J. Mol. Cell. Cardiol. 31:679-692.
19. Levy, D., Garrison, R.J., Savage, D.D., Kannel, W.B., and Castelli, W.P. 1990. Prognostic implications of echocardiographically determined left ventricular mass in the Framingham Heart Study. J. Engl. J. Med. 322:1561-1566.
20. 2+-ATPase forms a functional interaction site with phospholamban. Evidence for physical interactions at other sites. J. Biol. Chem. 274:32855-32862.
21. Kimura, Y., Kurzydlowski, K., Tada, M., and MacLennan, D.H. 1997. Phospholamban inhibitory function is activated by depolymerization. J. Biol. Chem. 272:15061-15064.
22. He, T.C., et al. 1998. A simplified system for generating recombinant adenoviruses. Proc. Natl. Acad. Sci. U. S. A. 95:2509-2514.
23. 2+ content in adult rat myocytes. Am. J. Physiol. Heart Circ. Physiol. 281:H2079-H2088.
24. 2+ indicators with greatly improved fluorescence properties. J. Biol. Chem. 260:3440-3450.
25. 2+affinity by phospholamban in transgenic hearts overexpressing a non-phosphorylatable form of phospholamban. J. Biol. Chem. 275:12129-12135.
26. Arkin, I.T., et al. 1994. Structural organization of the pentameric trans-membrane alpha-helices of phospholamban, a cardiac ion channel. EMBO J. 13:4757-4764.
27. Simmerman, H.K., Kobayashi, Y.M., Autry, J.M., and Jones, L.R. 1996. A leucine zipper stabilizes the pentameric membrane domain of phospholamban and forms a coiled-coil pore structure. J. Biol. Chem. 271:5941-5946.
28. 2+-handling in failing human myocardium. J. Mol. Cell. Cardiol. 33:1345-1353.
29. Geisterfer-Lowrance, A.A., et al. 1996 A mouse model of familial hypertrophic cardiomyopathy. Science. 272:731-734.
30. James, J., et al. 2002. Transgenic rabbits expressing mutant essential light chain do not develop hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol. 34:873-882.
31. Kass, D.A., Hare, J.M., and Georgakopoulos, D. 1998. Murine cardiac function: a cautionary tail. Circ. Res. 82:519-522.
32. Bers, D.M. 2002. Cardiac excitation-contraction coupling. Nature. 415:198-205.
33. Li, L., Chu, G., Kranias, E.G., and Bers, D.M. 1998. Cardiac myocyte calcium transport in phospholamban knockout mouse: relaxation and endogenous CaMKII effects. Am. J. Physiol. 274:H1335-H1347.
34. 2+ uptake and thapsigargin sensitivity in permeabilized rabbit and rat ventricular myocytes. Circ. Res. 73:820-828.
35. Small, K.M., Wagoner, L.E., Levin, A.M., Kardia, S.L., and Liggett, S.B. 2002. Synergistic polymorphisms of β1- and o:2C-adrenergic receptors and the risk of congestive heart failure. N. Engl. J. Med. 347:1135-1142.
36. Schmitt, J.P., et al. 2003. Phospholamban missense mutation Arg9Cys causes dominant dilated cardiomyopathy in man and mouse. Circulation. 106(Suppl. II):31. (Abstr.)
37. Cross, H.K., Kranias, E.G., Murphy, E., and Steenbergen, C. 2003. Ablation of PLB exacerbates ischemic injury to a lesser extent in female than male mice: protective role of NO. Am. J. Physiol. Heart Circ. Physiol. 284:H683-H690.
38. White, D.C., et al. 2000. Preservation of myocardial beta-adrenergic receptor signaling delays the development of heart failure after myocardial infarction. Proc Natl. Acad. Sci. U. S. A. 97:5428-5433.
39. Song, Q., et al. 2003. Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy. J. Clin. Invest. 111:859-867. doi:10.1172/JCI1200316738.