A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance

Cardiovascular Research

Volumn 77, Issue 1, 2008, Pages 98-106

  Gordon, Earl ^a   Panaghie, Gianina ^a   Deng, Liyong ^b   Bee, Katharine J ^a   Roepke, Torsten K ^a   Krogh Madsen, Trine ^a   Christini, David J ^a   Ostrer, Harry ^c   Basson, Craig T ^a   Chung, Wendy ^b   Abbott, Geoffrey W ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

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

Author keywords

HERG; KCNE2; KCNH2; Long QT syndrome; MiRP1; Potassium channel

Indexed keywords

ION CHANNEL; POTASSIUM CHANNEL KCNE2; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUDITORY STIMULATION; CASE REPORT; CHINESE HAMSTER; CHO CELL; ELECTROLYTE BLOOD LEVEL; ELECTROLYTE DISTURBANCE; FEMALE; GENE MUTATION; HEART ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HUMAN; HYPOCALCEMIA; HYPOKALEMIA; HYPOMAGNESEMIA; OVARY CELL; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE; STEADY STATE; SYNCOPE; WHOLE CELL;

ACOUSTIC STIMULATION; ADULT; ANIMALS; CALCIUM; CHO CELLS; CRICETINAE; CRICETULUS; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; HUMANS; KCNQ1 POTASSIUM CHANNEL; MUTATION; POTASSIUM CHANNELS, VOLTAGE-GATED; VENTRICULAR FIBRILLATION; WATER-ELECTROLYTE IMBALANCE;

EID: 38849147117     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvm030     Document Type: Article

References (35)

1. Keating MT. The long QT syndrome. A review of recent molecular genetic and physiologic discoveries. Medicine (Baltimore) 1996;75:1-5.
2. Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT. Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med 1997;336:1562-1567.
3. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 1997;17:338-340.
4. Roden DM. Early after-depolarizations and torsade de pointes: implications for the control of cardiac arrhythmias by prolonging repolarization. Eur Heart J 1993;14(Suppl. H):56-61.
5. Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW et al. MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia. Cell 1999;97:175-187.
6. Sesti F, Abbott GW, Wei J, Murray KT, Saksena S, Schwartz PJ et al. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci USA 2000;97:10613-10618.
7. Isbrandt D, Friederich P, Solth A, Haverkamp W, Ebneth A, Borggrefe M et al. Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. J Mol Med 2002;80:524-532.
8. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor JF, Bathen J et al. IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997;6:2179-2185.
9. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996;384:78-80.
10. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 1996;384:80-83.
11. McDonald TV, Yu Z, Ming Z, Palma E, Meyers MB, Wang KW et al. A minK-HERG complex regulates the cardiac potassium current I(Kr). Nature 1997;388:289-292.
12. Mitcheson JS, Chen J, Lin M, Culberson C, Sanguinetti MC. A structural basis for drug-induced long QT syndrome. Proc Natl Acad Sci USA 2000;97:12329-12333.
13. Surawicz B. Electrolytes and the electrocardiogram. Am J Cardiol 1963;12:656-662.
14. Papaceit J, Moral V, Recio J, de Ferrer JM, Riva J, Luna Bayes de A. Severe heart arrhythmia secondary to magnesium depletion. Torsade de pointes. Rev Esp Anestesiol Reanim 1990;37:28-31.
15. Basson CT. A molecular basis for Wolff-Parkinson-White syndrome. N Engl J Med 2001;344:1861-1864.
16. Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S et al. Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest 2000;106:R31-R38.
17. ten Tusscher KH, Noble D, Noble PJ, Pan.lov AV. A model for human ventricular tissue. Am J Physiol Heart Circ Physiol 2004;286: H1573-H1589.
18. Tester DJ, Will ML, Haglund CM, Ackerman MJ. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005;2:507-517.
19. Roepke TK, Anantharam A, Kirchhoff P, Busque SM, Young JB, Geibel JP et al. The KCNE2 potassium channel ancillary subunit is essential for gastric acid secretion. J Biol Chem 2006;281:23740-23747.
20. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997;15:186-189.
21. Sanguinetti MC, Jiang C, Curran ME, Keating MT. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 1995;81:299-307.
22. Smith PL, Baukrowitz T, Yellen G. The inward recti.cation mechanism of the HERG cardiac potassium channel. Nature 1996;379:833-836.
23. Ho WK, Kim I, Lee CO, Earm YE. Voltage-dependent blockade of HERG channels expressed in Xenopus oocytes by external Ca2+ and Mg2+. J Physiol 1998;507:631-638.
24. Stewart DE, Ikram H, Espiner EA, Nicholls MG. Arrhythmogenic potential of diuretic induced hypokalaemia in patients with mild hypertension and ischaemic heart disease. Br Heart J 1985;54:290-297.
25. Teng G, Zhao X, Cross JC, Li P, Lees-Miller JP, Guo J et al. Prolonged repolarization and triggered activity induced by adenoviral expression of HERG N629D in cardiomyocytes derived from stem cells. Cardiovasc Res 2004;61:268-277.
26. Bradley TJ, Metzger DL, Sanatani S. Long on QT and low on calcium. Cardiol Young 2004;14:667-670.
27. Wilde AA, Jongbloed RJ, Doevendans PA, Duren DR, Hauer RN, van Langen IM et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1). J Am Coll Cardiol 1999;33:327-332.
28. Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I et al. Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat 1999;13:301-310.
29. Moss AJ, Robinson JL, Gessman L, Gillespie R, Zareba W, Schwartz PJ et al. Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol 1999;84:876-879.
30. Bendahhou S, Marionneau C, Haurogne K, Larroque MM, Derand R, Szuts V et al. In vitro molecular interactions and distribution of KCNE family with KCNQ1 in the human heart. Cardiovasc Res 2005;67:529-538.
31. Gaborit N, Le Bouter S, Szuts V, Varro A, Escande D, Nattel S et al. Regional and tissue specific transcript signatures of ion channel genes in the non-diseased human heart. J Physiol 2007;582:675-693.
32. Jiang M, Zhang M, Tang DG, Clemo HF, Liu J, Holwitt D et al. KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts. Circulation 2004;109:1783-1788.
33. Radicke S, Cotella D, Graf EM, Banse U, Jost N, Varro A et al. Functional modulation of the transient outward current I(to) by KCNE beta-subunits and regional distribution in human non-failing and failing hearts. Cardiovasc Res 2006;71:695-703.
34. Lu Y, Mahaut-Smith MP, Huang CL, Vandenberg JI. Mutant MiRP1 subunits modulate HERG K+ channel gating: a mechanism for pro-arrhythmia in long QT syndrome type 6. J Physiol 2003;551:253-262.
35. Torres AM, Bansal PS, Sunde M, Clarke CE, Bursill JA, Smith DJ et al. Structure of the HERG K+ channel S5P extracellular linker: role of an amphipathic alpha-helix in C-type inactivation. J Biol Chem 2003;278:42136-42148.