Cardiac channelopathies: From men to mice

Annals of Medicine

Volumn 36, Issue SUPPL. 1, 2004, Pages 28-34

  Charpentier, Flavien ^a   Demolombe, Sophie ^a   Escande, Denis ^a  

^a INSERM   (France)

Author keywords

Arrhythmia; Channelopathies; Monogenic disease; Transgenesis

Indexed keywords

ANKYRIN; ANTIBIOTIC AGENT; ERYTHROMYCIN; POTASSIUM CHANNEL BLOCKING AGENT; VOLTAGE GATED CALCIUM CHANNEL;

BRUGADA SYNDROME; CONFERENCE PAPER; DISEASE COURSE; DISEASE PREDISPOSITION; GENE DELETION; GENE FUNCTION; GENETIC CODE; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 4; HEART ARRHYTHMIA; HUMAN; INVALIDITY; LONG QT SYNDROME; MOUSE; NONHUMAN; PRIORITY JOURNAL;

EID: 2442656439     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.1080/17431380410032508     Document Type: Conference Paper

References (47)

1. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long-QT syndrome. Cell 1995;80:795-803.
2. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996;12:17-23.
3. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long-QT syndrome. Cell 1995;80:805-11.
4. Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003;421:634-9.
5. Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH. Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation 1998;97:142-6.
6. Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511-9.
7. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-6.
8. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1.
9. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2000;102:r49-53.
10. Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, 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;69:1378-84.
11. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003;299:251-4.
12. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K(V)LQT1 and IsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996;384:78-80.
13. 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;384:80-3.
14. + currents in adult mouse ventricular myocytes. J Gen Physiol 1999;113:661-78.
15. + current by overexpression of the long-QT syndrome HERG G628S mutation in transgenic mice. Circ Res 1998;83:668-78.
16. + channels in mouse heart. Circ Res 1996;79:79-85.
17. Lee MP, Ravenel JD, Hu RJ, Lustig LR, Tomaselli G, Berger RD, et al. Targeted disruption of the KvLQT1 gene causes deafness and gastric hyperplasia in mice. J Clin Invest 2000;106:1447-55.
18. 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;5:186-9.
19. Casimiro MC, Knollmann BC, Ebert SN, Vary JC, Jr, Greene AE, Franz MR, et al. Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange- Nielsen Syndrome. Proc Natl Acad Sci USA 2001;98:2526-31.
20. Demolombe S, Lande G, Charpentier F, van Roon MA, van den Hoff MJ, Toumaniantz G, et al. Transgenic mice overexpressing human KvLQT1 dominant-negative isoform. Part I: Phenotypic characterisation. Cardiovasc Res 2001;50:314-27.
21. + current by overexpression of the long-QT syndrome HERG G628S mutation in transgenic mice. Circ Res 1998;83:668-78.
22. London B, Pan X. QT interval prolongation and arrhythmias in heterozygous MERG1-targeted mice. Circulation 1998;98:279(abstract).
23. Lees-Miller JP, Guo J, Somers JR, Roach DE, Sheldon RS, Rancourt DE, et al. Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia. Mol Cell Biol 2003;23:1856-62.
24. Dumaine R, Wang Q, Keating MT, Hartmann HA, Schwartz PJ, Brown AM, et al. Multiple mechanisms of Na+ channel-linked long-QT syndrome. Circ Res 1996;78:916-24.
25. Nuyens D, Stengl M, Dugarmaa S, Rossenbacker T, Compernolle V, Rudy Y, et al. Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat Med 2001;7:1021-7.
26. Veldkamp MW, Wilders R, Baartscheer A, Zegers JG, Bezzina CR, Wilde AA. Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. Circ Res 2003;92:976-83.
27. Mohler PJ, Gramolini AO, Bennett V. Ankyrins. J Cell Sci 2002;115:1565-6.
28. Vetter DE, Mann JR, Wangemann P, Liu J, McLaughlin KJ, Lesage F, et al. Inner ear defects induced by null mutation of the isk gene. Neuron 1996;17:1251-64.
29. Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet 1997;17:267-8.
30. Franco D, Demolombe S, Kupershmidt S, Dumaine R, Dominguez JN, Roden D, et al. Divergent expression of delayed rectifier K(+) channel subunits during mouse heart development. Cardiovasc Res 2001;52:65-75.
31. Kupershmidt S, Yang T, Anderson ME, Wessels A, Niswender KD, Magnuson MA, et al. Replacement by homologous recombination of the minK gene with lacZ reveals restriction of minK expression to the mouse cardiac conduction system. Circ Res 1999;84:146-52.
32. Lande G, Kyndt F, Baro I, Chabannes D, Boisseau P, Pony JC, et al. Dynamic analysis of the QT interval in long-QT1 syndrome patients with a normal phenotype. Eur Heart J 2001;22:410-22.
33. Warth R, Barhanin J. The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene. Am J Physiol Regul Integr Comp Physiol 2002;282:R639-48.
34. K1) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes. J Physiol (Lond) 2001;533:697-710.
35. Antzelevitch C, Brugada P, Brugada J, Brugada R, Shimizu W, Gussak I, et al. Brugada syndrome: a decade of progress. Circ Res 2002;91:1114-8.
36. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-96.
37. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1.
38. Probst V, Kyndt F, Potet F, Trochu JN, Mialet G, Demolombe S, et al. Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease. J Am Coll Cardiol 2003;41:643-52.
39. Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, et al. Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol 2002;40:350-6.
40. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001;104:3081-6.
41. Papadatos GA, Wallerstein PM, Head CE, Ratcliff R, Brady PA, Benndorf K, et al. Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Natl Acad Sci USA 2002;99:6210-5.
42. Wehrens XH, Lehnart SE, Huang F, Vest JA, Reiken SR, Mohler PJ, et al. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 2003;113:829-40.
43. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003;299:251-4.
44. Schulze-Bahr E, Neu A, Friederich P, Kaupp UB, Breithardt G, Pongs O, et al. Pacemaker channel dysfunction in a patient with sinus node disease. J Clin Invest 2003;111:1537-45.
45. Le Bouter S, Demolombe S, Chambellan A, Bellocq C, Aimond F, Toumaniantz G, et al. Microarray analysis reveals complex remodeling of cardiac ion channel expression with altered thyroid status: relation to cellular and integrated electrophysiology. Circ Res 2003;92:234-42.
46. Guo W, Li H, London B, Nerbonne JM. Functional consequences of elimination of i(to,f) and i(to,s): early after-depolarizations, atrioventricular block, and ventricular arrhythmias in mice lacking Kv1.4 and expressing a dominant-negative Kv4 alpha subunit. Circ Res 2000;87:73-9.
47. Zhou J, Kodirov S, Murata M, Buckett PD, Nerbonne JM, Koren G. Regional upregulation of Kv2.1-encoded current, IK, slow2, in Kv1DN mice is abolished by crossbreeding with Kv2DN mice. Am J Physiol Heart Circ Physiol 2003;284:H491-500.