Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation

Journal of Molecular and Cellular Cardiology

Volumn 48, Issue 1, 2010, Pages 181-190

  Abraham, Robert L ^a   Yang, Tao ^a   Blair, Marcia ^a   Roden, Dan M ^a   Darbar, Dawood ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Action potentials; Atrial fibrillation; Atrial natriuretic peptide; Genetics; Ion channels

Indexed keywords

ARGININE; ATRIAL NATRIURETIC FACTOR; ATRIAL NATRIURETIC FACTOR ANTAGONIST; CALCIUM CHANNEL L TYPE; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1; SERINE;

ADULT; ANIMAL CELL; ARTICLE; CALCIUM CURRENT; CHANNEL GATING; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEMALE; GENETIC DISORDER; GENOMIC FRAGMENT; HEART ATRIUM FIBRILLATION; HEART DISEASE; HEART MUSCLE POTENTIAL; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MATHEMATICAL MODEL; NONHUMAN; PHENOTYPIC VARIATION; POTASSIUM CURRENT; PRIORITY JOURNAL; WILD TYPE;

ACTION POTENTIALS; ADULT; ATRIAL FIBRILLATION; ATRIAL NATRIURETIC FACTOR; COMPUTER SIMULATION; ELECTROPHYSIOLOGY; FEMALE; HUMANS; KCNQ1 POTASSIUM CHANNEL; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POTASSIUM;

CRICETULUS GRISEUS;

EID: 73049088536     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2009.07.020     Document Type: Article

References (53)

1. Go A.S., Hylek E.M., Phillips K.A., Chang Y., Henault L.E., Selby J.V., et al. Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) study. JAMA 285 18 (2001) 2370-2375
2. Lloyd-Jones D.M., Wang T.J., Leip E.P., Larson M.G., Levy D., and Vasan R.S. Lifetime risk for development of atrial fibrillation: the Framingham Heart study. Circulation 110 9 (2004) 1042-1046
3. Wolf P.A., Abbott R.D., and Kannel W.B. Atrial fibrillation as an independent risk factor for stroke: the Framingham study. Stroke 22 8 (1991) 983-988
4. Benjamin E.J., Wolf P.A., D'Agostino R.B., Silbershatz H., Kannel W.B., and Levy D. Impact of atrial fibrillation on the risk of death: the Framingham Heart study. Circulation 98 10 (1998) 946-952
5. Gersh B.J., Tsang T.S., and Seward J.B. The changing epidemiology and natural history of nonvalvular atrial fibrillation: clinical implications. Trans. Am. Clin. Climatol. Assoc. 115 (2004) 149-160
6. Kopecky S.L., Gersh B.J., McGoon M.D., Whisnant J.P., Holmes Jr. D.R., Ilstrup D.M., et al. The natural history of lone atrial fibrillation. A population-based study over three decades. N. Engl. J. Med. 317 11 (1987) 669-674
7. Darbar D., Herron K.J., Ballew J.D., Jahangir A., Gersh B.J., Shen W.K., et al. Familial atrial fibrillation is a genetically heterogeneous disorder. J. Am. Coll. Cardiol. 41 12 (2003) 2185-2192
8. Ellinor P.T., Yoerger D.M., Ruskin J.N., and Macrae C.A. Familial aggregation in lone atrial fibrillation. Hum. Genet. 118 2 (2005) 179-184
9. Fox C.S., Parise H., D'Agostino Sr. R.B., Lloyd-Jones D.M., Vasan R.S., Wang T.J., et al. Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA 291 23 (2004) 2851-2855
10. Chen Y.H., Xu S.J., Bendahhou S., Wang X.L., Wang Y., Xu W.Y., et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299 5604 (2003) 251-254
11. Keating M.T., and Sanguinetti M.C. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 104 4 (2001) 569-580
12. Yang Y., Xia M., Jin Q., Bendahhou S., Shi J., Chen Y., et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am. J. Hum. Genet. 75 5 (2004) 899-905
13. Xia M., Jin Q., Bendahhou S., He Y., Larroque M.M., Chen Y., et al. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem. Biophys. Res. Commun. 332 4 (2005) 1012-1019
14. Olson T.M., Alekseev A.E., Liu X.K., Park S., Zingman L.V., Bienengraeber M., et al. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum. Mol. Genet. 15 14 (2006) 2185-2191
15. Darbar D., Kannankeril P.J., Donahue B.S., Kucera G., Stubblefield T., Haines J.L., et al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 117 (2008) 1927-1935
16. Watanabe H., Darbar D., Ingram C.R., Jiramongkolchai K., Chopra S.S., and Kucera G. Abstract 356: loss of function mutations of sodium channel Beta-1 and Beta-2 subunits associated with atrial fibrillation and ST-segment elevation. Circulation 116 (2007) II-54a (16_MeetingAbstracts)
17. Hodgson-Zingman D.M., Karst M.L., Zingman L.V., Heublein D.M., Darbar D., Herron K.J., et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N. Engl. J. Med. 359 2 (2008) 158-165
18. Seidman C.E., Bloch K.D., Klein K.A., Smith J.A., and Seidman J.G. Nucleotide sequences of the human and mouse atrial natriuretic factor genes. Science 226 (1984) 1206-1209
19. Greenberg B.D., Bencen G.H., Seilhamer J.J., Lewicki J.A., and Fiddes J.C. Nucleotide sequence of the gene encoding human atrial natriuretic factor precursor. Nature 312 (1984) 656-658
20. Vesely D.L. Atrial natriuretic peptides in pathophysiological diseases. Cardiovasc Res 51 (2001) 647-658
21. Lewicki J.A., Greenberg B., Yamanaka M., Vlasuk G., Brewer M., Gardner D., et al. Cloning, sequence analysis, and processing of the rat and human atrial natriuretic peptide precursors. Fed Proc 45 (1986) 2086-2090
22. Yan W., Wu F., Morser J., and Wu Q. Corin, a transmembrane cardiac serine protease, acts as a pro-atrial natriuretic peptide-converting enzyme. Proc Natl Acad Sci U S A 97 (2000) 8525-8529
23. Vesely D.L., Douglass M.A., Dietz J.R., Gower Jr. W.R., McCormick M.T., Rodriguez-Paz G., et al. Three peptides from the atrial natriuretic factor prohormone amino terminus lower blood pressure and produce diuresis, natriuresis, and/or kaliuresis in humans. Circulation 90 (1994) 1129-1140
24. Martin D.R., Pevahouse J.B., Trigg D.J., Vesely D.L., and Buerkert J.E. Three peptides from the ANF prohormone NH(2)-terminus are natriuretic and/or kaliuretic. Am J Physiol. 258 (1990) F1401-F1408
25. Vesely D.L., Dietz J.R., Parks J.R., Baig M., McCormick M.T., Cintron G., et al. Vessel dilator enhances sodium and water excretion and has beneficial hemodynamic effects in persons with congestive heart failure. Circulation 98 (1998) 323-329
26. Burashnikov A., and Antzelevitch C. Can inhibition of IKur promote atrial fibrillation?. Heart Rhythm. 5 9 (2008) 1304-1309
27. Anyukhovsky E.P., Sosunov E.A., Chandra P., Rosen T.S., Boyden P.A., Danilo Jr. P., et al. Age-associated changes in electrophysiologic remodeling: a potential contributor to initiation of atrial fibrillation. Cardiovasc. Res. 66 2 (2005) 353-363
28. Rhodes T.E., Abraham R.L., Welch R.C., Vanoye C.G., Crotti L., Arnestad M., et al. Cardiac potassium channel dysfunction in sudden infant death syndrome. J. Mol. Cell Cardiol. 44 3 (2008) 571-581
29. Yang T., Kanki H., and Roden D.M. Phosphorylation of the IKs channel complex inhibits drug block: novel mechanism underlying variable antiarrhythmic drug actions. Circulation 108 2 (2003) 132-134
30. Kanki H., Kupershmidt S., Yang T., Wells S., and Roden D.M. A structural requirement for processing the cardiac K+ channel KCNQ1. J. Biol. Chem. 279 32 (2004) 33976-33983
31. Silva J., and Rudy Y. Subunit interaction determines IKs participation in cardiac repolarization and repolarization reserve. Circulation 112 10 (2005) 1384-1391
32. Courtemanche M., Ramirez R.J., and Nattel S. Ionic mechanisms underlying human atrial action potential properties: insights from a mathematical model. Am. J. Physiol. (Heart Circ. Physiol. 44). 275 1 (1998) H301-H321
33. Shimizu K., Shintani Y., Ding W.G., Matsuura H., and Bamba T. Potentiation of slow component of delayed rectifier K(+) current by cGMP via two distinct mechanisms: inhibition of phosphodiesterase 3 and activation of protein kinase G. Br. J. Pharmacol. 137 1 (2002) 127-137
34. Nunez L., Vaquero M., Gomez R., Caballero R., Mateos-Caceres P., Macaya C., et al. Nitric oxide blocks hKv1.5 channels by S-nitrosylation and by a cyclic GMP-dependent mechanism. Cardiovasc. Res. 72 1 (2006) 80-89
35. Maack T. Receptors of atrial natriuretic factor. Ann. Rev. Physiol. 54 1 (1992) 11-27
36. Nachshon S., Zamir O., Matsuda Y., and Zamir N. Effects of ANP receptor antagonists on ANP secretion from adult rat cultured atrial myocytes. Am. J. Physiol. 268 3 (1995) E428-E432
37. Nattel S. New ideas about atrial fibrillation 50 years on. Nature 415 6868 (2002) 219-226
38. Vincenti A., Brambilla R., Fumagalli M.G., Merola R., and Pedretti S. Onset mechanism of paroxysmal atrial fibrillation detected by ambulatory Holter monitoring. Europace 8 3 (2006) 204-210
39. Otway R., Vandenberg J.I., Guo G., Varghese A., Castro M.L., Liu J., et al. Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation?. J. Am. Coll. Cardiol. 49 5 (2007) 578-586
40. Ellinor P.T., Moore R.K., Patton K.K., Ruskin J.N., Pollak M.R., and Macrae C.A. Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation. Heart 90 12 (2004) 1487-1488
41. Ellinor P.T., Petrov-Kondratov V.I., Zakharova E., Nam E.G., and Macrae C.A. Potassium channel gene mutations rarely cause atrial fibrillation. BMC Med. Genet. 7 (2006) 70
42. Sorbera L.A., and Morad M. Atrionatriuretic peptide transforms cardiac sodium channels into calcium-conducting channels. Science 247 4945 (1990) 969-973
43. Le Grand B., Deroubaix E., Couetil J.P., and Coraboeuf E. Effects of atrionatriuretic factor on Ca2+ current and Cai-independent transient outward K+ current in human atrial cells. Pflugers. Arch. 421 5 (1992) 486-491
44. Lonardo G., Cerbai E., Casini S., Giunti G., Bonacchi M., Battaglia F., et al. Atrial natriuretic peptide modulates the hyperpolarization-activated current (If) in human atrial myocytes. Cardiovasc. Res. 63 3 (2004) 528-536
45. Tuinenburg A.E., Van Veldhuisen D.J., Boomsma F., Van Den Berg M.P., De Kam P.J., and Crijns H.J.G.M. Comparison of plasma neurohormones in congestive heart failure patients with atrial fibrillation versus patients with sinus rhythm. Am. J. Cardiol. 81 10 (1998) 1207-1210
46. Rossi A., Enriquez-Sarano M., Burnett Jr. J.C., Lerman A., Abel M.D., and Seward J.B. Natriuretic peptide levels in atrial fibrillation: a prospective hormonal and Doppler-echocardiographic study. J. Am. Coll. Cardiol. 35 5 (2000) 1256-1262
47. Stambler B.S., and Guo G.B. Atrial natriuretic peptide has dose-dependent, autonomically mediated effects on atrial refractoriness and repolarization in anesthetized dogs. J. Cardiovasc. Electrophysiol. 16 12 (2005) 1341-1347
48. Clemo H.F., Baumgarten C.M., Ellenbogen K.A., and Stambler B.S. Atrial natriuretic peptide and cardiac electrophysiology: autonomic and direct effects. J. Cardiovasc. Electrophysiol. 7 2 (1996) 149-162
49. Kecskemeti V., Pacher P., Pankucsi C., and Nanasi P. Comparative study of cardiac electrophysiological effects of atrial natriuretic peptide. Mol. Cell. Biochem. 160-161 (1996) 53-59
50. Fish J.M., and Antzelevitch C. Role of sodium and calcium channel block in unmasking the Brugada syndrome. Heart Rhythm 1 2 (2004) 210-217
51. Feng J., Yue L., Wang Z., and Nattel S. Ionic mechanisms of regional action potential heterogeneity in the canine right atrium. Circ. Res. 83 5 (1998) 541-551
52. Wang J., Liu L., Feng J., and Nattel S. Regional and functional factors determining induction and maintenance of atrial fibrillation in dogs. Am. J. Physiol. (Heart Circ. Physiol. 40) 271 1 (1996) H148-H158
53. Ellinor P.T., Low A.F., Patton K.K., Shea M.A., and Macrae C.A. Discordant atrial natriuretic peptide and brain natriuretic peptide levels in lone atrial fibrillation. J. Am. Coll. Cardiol. 45 1 (2005) 82-86