Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles

Heart Rhythm

Volumn 7, Issue 7, 2010, Pages 973-980

  Hayashi, Kenshi ^a,b   Shuai, Wen ^a   Sakamoto, Yuichiro ^b   Higashida, Haruhiro ^b   Yamagishi, Masakazu ^b   Kupershmidt, Sabina ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

Author keywords

Arrhythmia; Electrophysiology; Genetic variants; Long QT syndrome; Potassium channel; Trafficking

Indexed keywords

POTASSIUM CHANNEL HERG; POTASSIUM CHANNEL KCNQ1;

ANIMAL CELL; ARTICLE; BIOCHEMISTRY; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENETIC VARIABILITY; HAMSTER; KINETICS; LONG QT SYNDROME; NONHUMAN; OVARY CELL; PATCH CLAMP; PRIORITY JOURNAL; WILD TYPE;

ANIMALS; BLOTTING, WESTERN; CELL MEMBRANE; CHO CELLS; CRICETINAE; CRICETULUS; ELECTROPHYSIOLOGIC TECHNIQUES, CARDIAC; ETHER-A-GO-GO POTASSIUM CHANNELS; IMMUNOPRECIPITATION; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; PATCH-CLAMP TECHNIQUES; PROTEIN TRANSPORT;

EID: 77953834463     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.03.038     Document Type: Article

References (35)

1. Sanguinetti M.C., and Jurkiewicz N.K. Two components of cardiac delayed rectifier K+ current. Differential sensitivity to block by class III antiarrhythmic agents. J Gen Physiol 96 (1990) 195-215
2. Sanguinetti M.C., Jiang C., Curran M.E., and Keating M.T. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81 (1995) 299-307
3. Warmke J.W., and Ganetzky B. A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci U S A 91 (1994) 3438-3442
4. Sanguinetti M.C., Curran M.E., Zou A., et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384 (1996) 80-83
5. Barhanin J., Lesage F., Guillemare E., Fink M., Lazdunski M., and Romey G. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 384 (1996) 78-80
6. Wang Q., Curran M.E., Splawski I., et al. Positional cloning of a novel potassium channel gene. KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12 (1996) 17-23
7. Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., and Keating M.T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80 (1995) 795-803
8. Ehrlich J.R., Pourrier M., Weerapura M., et al. KvLQT1 modulates the distribution and biophysical properties of HERG. A novel alpha-subunit interaction between delayed rectifier currents. J Biol Chem 279 (2004) 1233-1241
9. Biliczki P., Girmatsion Z., Brandes R.P., et al. Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs [alpha]-subunit interaction. Heart Rhythm 6 (2009) 1792-1801
10. Brunner M., Peng X., Liu G.X., et al. Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. J Clin Invest 118 (2008) 2246-2259
11. Yamashita F., Horie M., Kubota T., et al. Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. J Mol Cell Cardiol 33 (2001) 197-207
12. Kupershmidt S., Snyders D.J., Raes A., and Roden D.M. A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current. J Biol Chem 273 (1998) 27231-27235
13. 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 (2004) 33976-3383
14. Kupershmidt S., Yang I.C., Hayashi K., et al. IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. FASEB J 17 (2003) 2263-2265
15. Vandenberg J.I., Varghese A., Lu Y., Bursill J.A., Mahaut-Smith M.P., and Huang C.L.H. Temperature dependence of human ether-a-go-go-related gene K+ currents. Am J Physiol 291 (2006) C165-C175
16. Nerbonne J.M. Molecular basis of functional voltage-gated K+ channel diversity in the mammalian myocardium. J Physiol 525 Pt 2 (2000) 285-298
17. Yamashita F., Horie M., Kubota T., et al. Characterization and subcellular localization of kcnq1 with a heterozygous mutation in the C terminus. J Mol Cell Cardiol 33 (2001) 197-207
18. Hayashi K., Shimizu M., Ino H., et al. Probucol aggravates long QT syndrome associated with a novel missense mutation M124T in the N-terminus of HERG. Clin Sci 107 (2004) 175-182
19. Furutani M., Trudeau M.C., Hagiwara N., et al. Novel mechanism associated with an inherited cardiac arrhythmia-defective protein trafficking by the mutant HERG (G601S) potassium channel. Circulation 99 (1999) 2290-2294
20. Ficker E., Obejero-Paz C.A., Zhao S., and Brown A.M. The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. J Biol Chem 277 (2002) 4989-4998
21. Zhou Z., Gong Q., Epstein M.L., and January C.T. HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects. J Biol Chem 273 (1998) 21061-21066
22. Smith P.L., Baukrowitz T., and Yellen G. The inward rectification mechanism of the HERG cardiac potassium channel. Nature 379 (1996) 833-836
23. Spector P.S., Curran M.E., Zou A., Keating M.T., and Sanguinetti M.C. Fast inactivation causes rectification of the IKr channel. J Gen Phys 107 (1996) 611-619
24. Gong Q., Anderson C.L., January C.T., and Zhou Z. Role of glycosylation in cell surface expression and stability of HERG potassium channels. Am J Physiol 283 (2002) H77-H84
25. Petrecca K., Atanasiu R., Akhavan A., and Shrier A. N-linked glycosylation sites determine HERG channel surface membrane expression. J Phys London 515 (1999) 41-48
26. Zhou Z., Gong Q., and January C.T. Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J Biol Chem 274 (1999) 31123-31126
27. Nakajima T., Hayashi K., Viswanathan P.C., et al. HERG is protected from pharmacological block by {alpha}-1,2-glucosyltransferase function. J Biol Chem 282 (2007) 5506-5513
28. Wang L., Dennis A.T., Trieu P., et al. Intracellular potassium stabilizes hERG channels for export from endoplasmic reticulum. Mol Pharmacol 75 (2009) 927-937
29. Potet F., Petersen C.I., Boutaud O., et al. Genetic screening in C. elegans identifies rho-GTPase activating protein 6 as novel HERG regulator. J Mol Cell Cardiol 46 (2009) 257-267
30. Sanguinetti M.C., and Jurkiewicz N.K. Delayed rectifier outward K+ current is composed of two currents in guinea pig atrial cells. Am J Physiol 260 (1991) H393-H399
31. Delisle B.P., Anderson C.L., Balijepalli R.C., Anson B.D., Kamp T.J., and January C.T. Thapsigargin selectively rescues the trafficking defective LQT2 channels G601S and F805C. J Biol Chem 278 (2003) 35749-35754
32. Rajamani S., Anderson C., Anson B.D., and January C.T. Pharmacological rescue of human K+ channel long-QT2 mutations-human ether-a-go-go-related gene rescue without block. Circulation 105 (2002) 2830-2835
33. Grunnet M., Behr E.R., Calloe K., et al. Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome. Heart Rhythm 2 (2005) 1238-1249
34. Yamaguchi M., Shimizu M., Ino H., et al. Compound heterozygosity for mutations Asp611->Tyr in KCNQ1 and Asp609->Gly in KCNH2 associated with severe long QT syndrome. Clin Sci 108 (2005) 143-150
35. Berthet M., Denjoy I., Donger C., et al. C-terminal HERG mutations-the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. Circulation 99 (1999) 1464-1470