Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

Journal of Molecular and Cellular Cardiology - Tập 80 - Trang 186-195 - 2015
Konstantin Wemhöner1, Corinna Friedrich2, Birgit Stallmeyer2, Alison J. Coffey3, Andrew A. Grace4, Sven Zumhagen2, Guiscard Seebohm2, Beatriz Ortiz‐Bonnin1, Susanne Rinné1, Frank B. Sachse5, Eric Schulze‐Bahr2, Niels Decher6
1Institute of Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, Deutschhausstr. 1-2, 35037 Marburg, Germany.
2Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Domagkstr. 3, 48149 Münster, Germany.
3Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
4Department of Biochemistry, University of Cambridge, Hopkins Building, Tennis Court Road, Cambridge CB2 1QW, UK; Papworth Hospital, Cambridge CB23 3RE, UK.
5Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, 95 South 2000 East, Salt Lake City, UT 84112, USA; Department of Bioengineering, James LeVoy Sorenson Molecular Biotechnology Building, 36 S. Wasatch Drive, Salt Lake City, UT 84112, USA.
6Institute of Physiology and Pathophysiology, Vegetative Physiology, Philipps-University of Marburg, Deutschhausstr. 1-2, 35037 Marburg, Germany. Electronic address: [email protected].

Tóm tắt

Từ khóa


Tài liệu tham khảo

Minor, 2010, Progress in the structural understanding of voltage-gated calcium channel (Cav) function and modulation, Channels (Austin), 4, 459, 10.4161/chan.4.6.12867

Ertel, 2000, Nomenclature of voltage-gated calcium channels, Neuron, 25, 533, 10.1016/S0896-6273(00)81057-0

Catterall, 2000, Structure and regulation of voltage-gated Ca2+ channels, Annu Rev Cell Dev Biol, 16, 521, 10.1146/annurev.cellbio.16.1.521

Mikami, 1989, Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel, Nature, 340, 230, 10.1038/340230a0

Schultz, 1993, Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart, Proc Natl Acad Sci U S A, 90, 6228, 10.1073/pnas.90.13.6228

Splawski, 2004, Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism, Cell, 119, 19, 10.1016/j.cell.2004.09.011

Boyett, 1994, Ultra-slow voltage-dependent inactivation of the calcium current in guinea-pig and ferret ventricular myocytes, Pflugers Arch, 428, 39, 10.1007/BF00374750

Mitarai, 2000, Two distinct inactivation processes related to phosphorylation in cardiac L-type Ca2+ channel currents, Am J Physiol Cell Physiol, 279, C603, 10.1152/ajpcell.2000.279.3.C603

Lacinova, 2005, Ca2+- and voltage-dependent inactivation of the expressed L-type Cav1.2 calcium channel, Arch Biochem Biophys, 437, 42, 10.1016/j.abb.2005.02.025

Peterson, 1999, Calmodulin is the Ca2+ sensor for Ca2+-dependent inactivation of L-type calcium channels, Neuron, 22, 549, 10.1016/S0896-6273(00)80709-6

Qin, 1999, Ca2+-induced inhibition of the cardiac Ca2+ channel depends on calmodulin, Proc Natl Acad Sci U S A, 96, 2435, 10.1073/pnas.96.5.2435

Zuhlke, 1999, Calmodulin supports both inactivation and facilitation of L-type calcium channels, Nature, 399, 159, 10.1038/20200

Ferreira, 1997, Ion-dependent inactivation of barium current through L-type calcium channels, J Gen Physiol, 109, 449, 10.1085/jgp.109.4.449

Splawski, 2005, Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations, Proc Natl Acad Sci U S A, 102, 8089, 10.1073/pnas.0502506102

Limberg, 2013, Non dominant-negative KCNJ2 gene mutations leading to Andersen–Tawil syndrome with an isolated cardiac phenotype, Basic Res Cardiol, 108, 353, 10.1007/s00395-013-0353-1

Streit, 2011, A specific two-pore domain potassium channel blocker defines the structure of the TASK-1 open pore, J Biol Chem, 286, 13977, 10.1074/jbc.M111.227884

White, 1990, Niflumic and flufenamic acids are potent reversible blockers of Ca2+-activated Cl− channels in Xenopus oocytes, Mol Pharmacol, 37, 720

Iyer, 2004, A computational model of the human left-ventricular epicardial myocyte, Biophys J, 87, 1507, 10.1529/biophysj.104.043299

Cavalie, 1983, Elementary currents through Ca2+ channels in guinea pig myocytes, Pflugers Arch, 398, 284, 10.1007/BF00657238

Press, 1992

Burashnikov, 2010, Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death, Heart Rhythm, 7, 1872, 10.1016/j.hrthm.2010.08.026

Lee, 1985, Inactivation of calcium channels in mammalian heart cells: joint dependence on membrane potential and intracellular calcium, J Physiol, 364, 395, 10.1113/jphysiol.1985.sp015752

Gillis, 2012, Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome, Am J Med Genet A, 158A, 182, 10.1002/ajmg.a.34355

Dixon, 2012, Ca2+ signaling amplification by oligomerization of L-type Cav1.2 channels, Proc Natl Acad Sci U S A, 109, 1749, 10.1073/pnas.1116731109

Erxleben, 2006, 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, 3932, 10.1073/pnas.0511322103

Barrett, 2008, 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, 2157, 10.1073/pnas.0710501105

Etheridge, 2011, Somatic mosaicism contributes to phenotypic variation in Timothy syndrome, Am J Med Genet A, 155A, 2578, 10.1002/ajmg.a.34223

Dufendach, 2013, Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome, Pediatrics, 131, e1991, 10.1542/peds.2012-2941

Frohler, 2014, Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2), BMC Med Genet, 15, 48, 10.1186/1471-2350-15-48

Boczek, 2013, Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome, Circ Cardiovasc Genet, 6, 279, 10.1161/CIRCGENETICS.113.000138

Fukuyama, 2014, Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

Simms, 2012, The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels, Mol Brain, 5, 9, 10.1186/1756-6606-5-9

Tang, 2004, Transcript scanning reveals novel and extensive splice variations in human L-type voltage-gated calcium channel, Cav1.2 alpha1 subunit, J Biol Chem, 279, 44335, 10.1074/jbc.M407023200

Boczek, 2015, Novel Timothy syndrome mutation leading to increase in CACNA1C window current, Heart Rhythm, 12, 211, 10.1016/j.hrthm.2014.09.051

Hofmann, 2014, L-type Cav1.2 calcium channels: from in vitro findings to in vivo function, Physiol Rev, 94, 303, 10.1152/physrev.00016.2013

Ramachandran, 2013, Calcium influx through L-type Cav1.2 Ca2+ channels regulates mandibular development, J Clin Invest, 123, 1638, 10.1172/JCI66903

Papanayotou, 2013, Calfacilitin is a calcium channel modulator essential for initiation of neural plate development, Nat Commun, 4, 1837, 10.1038/ncomms2864

Bidaud, 2011, Hallmarks of the channelopathies associated with L-type calcium channels: a focus on the Timothy mutations in Cav1.2 channels, Biochimie, 93, 2080, 10.1016/j.biochi.2011.05.015