Hallmarks of the channelopathies associated with L-type calcium channels: A focus on the Timothy mutations in Cav1.2 channels

Biochimie

Volumn 93, Issue 12, 2011, Pages 2080-2086

  Bidaud, Isabelle ^a,b   Lory, Philippe ^a,b  

^a INSTITUT DE GÉNOMIQUE FONCTIONNELLE   (France)

^b UNIV MONTPELLIER   (France)

Author keywords

Calcium channelopathies; Calcium current; L type calcium channels; Timothy syndrome

Indexed keywords

CALCIUM CHANNEL L TYPE;

ARTICLE; BRUGADA SYNDROME; CALCIUM CHANNELOPATHY; CALCIUM CURRENT; CELL MEMBRANE; ELECTROPHYSIOLOGY; GENE MUTATION; HYPOKALEMIC PERIODIC PARALYSIS; MALIGNANT HYPERTHERMIA; NIGHT BLINDNESS; NONHUMAN; PHLEUM PRATENSE; SINUS NODE;

PHLEUM PRATENSE;

EID: 80855148222     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2011.05.015     Document Type: Short Survey

References (43)

1. P. Lory, R.A. Ophoff, and J. Nahmias Towards a unified nomenclature describing voltage-gated calcium channel genes Hum. Genet. 100 1997 149 150 (Pubitemid 27338781)
2. W.A. Catterall, E. Perez-Reyes, T.P. Snutch, and J. Striessnig International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels Pharmacol. Rev. 57 2005 411 425 (Pubitemid 43036432)
3. S. Huc, A. Monteil, I. Bidaud, G. Barbara, J. Chemin, and P. Lory Regulation of T-type calcium channels: signalling pathways and functional implications Biochim. Biophys. Acta 1793 2009 947 952
4. I. Bidaud, A. Mezghrani, L.A. Swayne, A. Monteil, and P. Lory Voltage-gated calcium channels in genetic diseases Biochim. Biophys. Acta 1763 2006 1169 1174 (Pubitemid 44779863)
5. I. Bidaud, A. Monteil, J. Nargeot, and P. Lory Properties and role of voltage-dependent calcium channels during mouse skeletal muscle differentiation J. Muscle Res. Cell Motil. 27 2006 75 81 (Pubitemid 44072124)
6. S. Moosmang, P. Lenhardt, N. Haider, F. Hofmann, and J.W. Wegener Mouse models to study L-type calcium channel function Pharmacol. Ther. 106 2005 347 355 (Pubitemid 40726293)
7. M.D. Cabral, P.E. Paulet, V. Robert, B. Gomes, M.L. Renoud, M. Savignac, C. Leclerc, M. Moreau, D. Lair, M. Langelot, A. Magnan, H. Yssel, B. Mariame, J.C. Guery, and L. Pelletier Knocking down Cav1 calcium channels implicated in Th2 cell activation prevents experimental asthma Am. J. Respir. Crit. Care Med. 181 2010 1310 1317
8. B. Gomes, M. Savignac, M. Moreau, C. Leclerc, P. Lory, J.C. Guery, and L. Pelletier Lymphocyte calcium signaling involves dihydropyridine-sensitive L-type calcium channels: facts and controversies Crit. Rev. Immunol. 24 2004 425 447 (Pubitemid 40397320)
9. M.E. Mangoni, B. Couette, E. Bourinet, J. Platzer, D. Reimer, J. Striessnig, and J. Nargeot Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity Proc. Natl. Acad. Sci. U S A 100 2003 5543 5548 (Pubitemid 36542741)
10. J. Platzer, J. Engel, A. Schrott-Fischer, K. Stephan, S. Bova, H. Chen, H. Zheng, and J. Striessnig Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels Cell 102 2000 89 97
11. P. Lapie, C. Goudet, J. Nargeot, B. Fontaine, and P. Lory Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells FEBS Letters 382 1996 244 248
12. S.C. Cannon Physiologic principles underlying ion channelopathies Neurotherapeutics 4 2007 174 183 (Pubitemid 46467549)
13. S. Sokolov, T. Scheuer, and W.A. Catterall Gating pore current in an inherited ion channelopathy Nature 446 2007 76 78 (Pubitemid 46348048)
14. N. Monnier, V. Procaccio, P. Stieglitz, and J. Lunardi Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle Am. J. Hum. Genet. 60 1997 1316 1325 (Pubitemid 27258063)
15. R.G. Weiss, K.M. O'Connell, B.E. Flucher, P.D. Allen, M. Grabner, and R.T. Dirksen Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling Am. J. Physiol. Cell Physiol. 287 2004 C1094 C1102
16. D. Carpenter, C. Ringrose, V. Leo, A. Morris, R.L. Robinson, P.J. Halsall, P.M. Hopkins, and M.A. Shaw The role of CACNA1S in predisposition to malignant hyperthermia BMC Med. Genet. 10 2009 104
17. A. Pirone, J. Schredelseker, P. Tuluc, E. Gravino, G. Fortunato, B.E. Flucher, A. Carsana, F. Salvatore, and M. Grabner Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit Am. J. Physiol. Cell Physiol. 299 2010 C1345 C1354
18. I. Splawski, K.W. Timothy, L.M. Sharpe, N. Decher, P. Kumar, R. Bloise, C. Napolitano, P.J. Schwartz, R.M. Joseph, K. Condouris, H. Tager-Flusberg, S.G. Priori, M.C. Sanguinetti, and M.T. Keating Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 119 2004 19 31 (Pubitemid 39349317)
19. I. Splawski, K.W. Timothy, N. Decher, P. Kumar, F.B. Sachse, A.H. Beggs, M.C. Sanguinetti, and M.T. Keating Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations Proc. Natl. Acad. Sci. U S A 102 2005 8089 8096 discussion 8086-8088 (Pubitemid 40800048)
20. C. Napolitano, and C. Antzelevitch Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac voltage-dependent L-type calcium channel Circ. Res. 108 2011 607 618
21. B. Gomes, M.D. Cabral, A. Gallard, M. Savignac, P. Paulet, P. Druet, B. Mariame, M. Moreau, C. Leclerc, J.C. Guery, and L. Pelletier Calcium channel blocker prevents T helper type 2 cell-mediated airway inflammation Am. J. Respir. Crit. Care Med. 175 2007 1117 1124 (Pubitemid 46855452)
22. L. Eliasson, F. Abdulkader, M. Braun, J. Galvanovskis, M.B. Hoppa, and P. Rorsman Novel aspects of the molecular mechanisms controlling insulin secretion J. Physiol. 586 2008 3313 3324 (Pubitemid 352003868)
23. M.A. Ferreira, M.C. O'Donovan, Y.A. Meng, I.R. Jones, D.M. Ruderfer, L. Jones, J. Fan, G. Kirov, R.H. Perlis, E.K. Green, J.W. Smoller, D. Grozeva, J. Stone, I. Nikolov, K. Chambert, M.L. Hamshere, V.L. Nimgaonkar, V. Moskvina, M.E. Thase, S. Caesar, G.S. Sachs, J. Franklin, K. Gordon-Smith, K.G. Ardlie, S.B. Gabriel, C. Fraser, B. Blumenstiel, M. Defelice, G. Breen, M. Gill, D.W. Morris, A. Elkin, W.J. Muir, K.A. McGhee, R. Williamson, D.J. MacIntyre, A.W. MacLean, C.D. St, M. Robinson, M. Van Beck, A.C. Pereira, R. Kandaswamy, A. McQuillin, D.A. Collier, N.J. Bass, A.H. Young, J. Lawrence, I.N. Ferrier, A. Anjorin, A. Farmer, D. Curtis, E.M. Scolnick, P. McGuffin, M.J. Daly, A.P. Corvin, P.A. Holmans, D.H. Blackwood, H.M. Gurling, M.J. Owen, S.M. Purcell, P. Sklar, and N. Craddock Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder Nat. Genet. 40 2008 1056 1058
24. A. Jacobs, B.P. Knight, K.T. McDonald, and M.C. Burke Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8) Heart Rhythm. 3 2006 967 970 (Pubitemid 44103509)
25. C. Antzelevitch, G.D. Pollevick, J.M. Cordeiro, O. Casis, M.C. Sanguinetti, Y. Aizawa, A. Guerchicoff, R. Pfeiffer, A. Oliva, B. Wollnik, P. Gelber, E.P. Bonaros Jr., E. Burashnikov, Y. Wu, J.D. Sargent, S. Schickel, R. Oberheiden, A. Bhatia, L.F. Hsu, M. Haissaguerre, R. Schimpf, M. Borggrefe, and C. Wolpert Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death Circulation 115 2007 442 449 (Pubitemid 46184195)
26. S.M. Baig, A. Koschak, A. Lieb, M. Gebhart, C. Dafinger, G. Nurnberg, A. Ali, I. Ahmad, M.J. Sinnegger-Brauns, N. Brandt, J. Engel, M.E. Mangoni, M. Farooq, H.U. Khan, P. Nurnberg, J. Striessnig, and H.J. Bolz Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness Nat. Neurosci. 14 2011 77 84
27. J. Striessnig, H.J. Bolz, and A. Koschak Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels Pflugers Arch. 460 2010 361 374
28. J.C. Hoda, F. Zaghetto, A. Koschak, and J. Striessnig Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels J. Neurosci. 25 2005 252 259 (Pubitemid 40110788)
29. R. Jalkanen, M. Mantyjarvi, R. Tobias, J. Isosomppi, E.M. Sankila, T. Alitalo, and N.T. Bech-Hansen X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene J. Med. Genet. 43 2006 699 704 (Pubitemid 44214909)
30. J. Chemin, A. Monteil, E. Perez-Reyes, E. Bourinet, J. Nargeot, and P. Lory Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability J. Physiol. 540 2002 3 14 (Pubitemid 35174982)
31. I. Vitko, I. Bidaud, J.M. Arias, A. Mezghrani, P. Lory, and E. Perez-Reyes The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations J. Neurosci. 27 2007 322 330 (Pubitemid 46106006)
32. C. Altier, S.J. Dubel, C. Barrere, S.E. Jarvis, S.C. Stotz, R.L. Spaetgens, J.D. Scott, V. Cornet, M. De Waard, G.W. Zamponi, J. Nargeot, and E. Bourinet Trafficking of L-type calcium channels mediated by the postsynaptic scaffolding protein AKAP79 J. Biol. Chem. 277 2002 33598 33603
33. M. Pragnell, M. De Waard, Y. Mori, T. Tanabe, T.P. Snutch, and K.P. Campbell Calcium channel beta-subunit binds to a conserved motif in the I-II cytoplasmic linker of the alpha 1-subunit Nature 368 1994 67 70
34. A.C. Dolphin Beta subunits of voltage-gated calcium channels J. Bioenerg. Biomembr. 35 2003 599 620 (Pubitemid 38124815)
35. C.F. Barrett, and R.W. Tsien The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels Proc. Natl. Acad. Sci. U S A 105 2008 2157 2162 (Pubitemid 351439481)
36. A. Raybaud, Y. Dodier, P. Bissonnette, M. Simoes, D.G. Bichet, R. Sauve, and L. Parent The role of the GX9GX3G motif in the gating of high voltage-activated Ca2+ channels J. Biol. Chem. 281 2006 39424 39436 (Pubitemid 46041902)
37. S.J. Dubel, C. Altier, S. Chaumont, P. Lory, E. Bourinet, and J. Nargeot Plasma membrane expression of T-type calcium channel alpha(1) subunits is modulated by high voltage-activated auxiliary subunits J. Biol. Chem. 279 2004 29263 29269 (Pubitemid 38915802)
38. T. Cens, J.P. Leyris, and P. Charnet Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel Pflugers Arch. 2008
39. C. Erxleben, Y. Liao, S. Gentile, D. Chin, C. Gomez-Alegria, Y. Mori, L. Birnbaumer, and D.L. Armstrong Cyclosporin and Timothy syndrome increase mode 2 gating of CaV1.2 calcium channels through aberrant phosphorylation of S6 helices Proc. Natl. Acad. Sci. U S A 103 2006 3932 3937 (Pubitemid 43376658)
40. M. Yazawa, B. Hsueh, X. Jia, A.M. Pasca, J.A. Bernstein, J. Hallmayer, and R.E. Dolmetsch Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome Nature 471 2011 230 234
41. F.M. Ashcroft From molecule to malady Nature 440 2006 440 447
42. P. Lory, and A. Mezghrani Calcium channelopathies in inherited neurological disorders: relevance to drug screening for acquired channel disorders IDrugs 13 2010 467 471
43. A. Mezghrani, A. Monteil, K. Watschinger, M.J. Sinnegger-Brauns, C. Barrere, E. Bourinet, J. Nargeot, J. Striessnig, and P. Lory A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels J. Neurosci. 28 2008 4501 4511