Erratum: Novel Mutation in the α-Myosin Heavy Chain Gene Is Associated With Sick Sinus Syndrome (Circulation: Arrhythmia and Electrophysiology (2015) 8 (400-408) DOI: 10.1161/CIRCEP.114.002534);Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome

Circulation: Arrhythmia and Electrophysiology

Volumn 8, Issue 2, 2015, Pages 400-408

  Ishikawa, Taisuke ^a,b   Jou, Chuanchau J ^c   Nogami, Akihiko ^d,e   Kowase, Shinya ^e   Arrington, Cammon B ^c   Barnett, Spencer M ^c   Harrell, Daniel T ^a   Arimura, Takuro ^b,f   Tsuji, Yukiomi ^a   Kimura, Akinori ^b   Makita, Naomasa ^a  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF TSUKUBA   (Japan)

^e YOKOHAMA ROSAI HOSPITAL   (Japan)

^f KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Genetics; MYH6; myosin heavy chain; sick sinus syndrome; sinus node dysfunction

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN ALPHA; CARDIAC MYOSIN; MORPHOLINO OLIGONUCLEOTIDE; MYH6 PROTEIN, HUMAN; MYH6 PROTEIN, ZEBRAFISH; MYOSIN HEAVY CHAIN; ZEBRAFISH PROTEIN;

ADOLESCENT; ADULT; AGED; ALPHA MYOSIN HEAVY CHAIN GENE; ANIMAL CELL; ARTICLE; CHILD; CONTROLLED STUDY; CYTOPLASM; EMBRYO; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEART CONDUCTION; HEART ELECTROPHYSIOLOGY; HEART MUSCLE CELL; HEART RATE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; INFANT; MALE; MOUSE; NEWBORN; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RAT; SARCOMERE; SICK SINUS SYNDROME; ZEBRA FISH; ACTION POTENTIAL; ANIMAL; CASE REPORT; ELECTROCARDIOGRAPHY; GENE SILENCING; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HEART PACING; HELA CELL LINE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; SPRAGUE DAWLEY RAT;

ACTION POTENTIALS; ANIMALS; ANIMALS, NEWBORN; CARDIAC MYOSINS; CARDIAC PACING, ARTIFICIAL; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY, AMBULATORY; FEMALE; GENE KNOCKDOWN TECHNIQUES; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; MIDDLE AGED; MORPHOLINOS; MUTATION; MYOCYTES, CARDIAC; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; RATS; RATS, SPRAGUE-DAWLEY; SARCOMERES; SICK SINUS SYNDROME; TRANSFECTION; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84932106894     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/HAE.0000000000000075     Document Type: Erratum

References (35)

1. Mangrum JM, DiMarco JP. The evaluation and management of bradycardia. N Engl J Med. 2000;342:703-709. doi: 10.1056/NEJM200003093421006.
2. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003;112:1019-1028. doi: 10.1172/JCI18062.
3. Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci USA. 2004;101:9137-9142. doi: 10.1073/pnas.0402546101.
4. Nof E, Luria D, Brass D, Marek D, Lahat H, Reznik-Wolf H, Pras E, Dascal N, Eldar M, Glikson M. Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. Circulation. 2007;116:463-470. doi: 10.1161/CIRCULATIONAHA.107.706887.
5. Amin AS, Asghari-Roodsari A, Tan HL. Cardiac sodium channelopathies. Pflugers Arch. 2010;460:223-237. doi: 10.1007/s00424-009-0761-0.
6. Harris SP, Rostkova E, Gautel M, Moss RL. Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism. Circ Res. 2004;95:930-936. doi: 10.1161/01. RES.0000147312.02673.56.
7. Granados-Riveron JT, Ghosh TK, Pope M, Bu'Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David Brook J. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet. 2010;19:4007-4016. doi: 10.1093/hmg/ddq315.
8. Gruen M, Gautel M. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C. J Mol Biol. 1999;286:933-949. doi: 10.1006/jmbi.1998.2522.
9. Reiser PJ, Kline WO. Electrophoretic separation and quantitation of cardiac myosin heavy chain isoforms in eight mammalian species. Am J Physiol. 1998;274(3 Pt 2):H1048-H1053.
10. Kimura A. Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J. 2008;72 Suppl A:A38-A48.
11. Lakdawala NK, Winterfield JR, Funke BH. Dilated cardiomyopathy. Circ Arrhythm Electrophysiol. 2013;6:228-237. doi: 10.1161/CIRCEP.111.962050.
12. Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005;112:54-59. doi: 10.1161/CIRCULATIONAHA.104.507699.
13. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-451.
14. Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005;37:423-428. doi: 10.1038/ng1526.
15. Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Özcelik C. Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PLoS One. 2011;6:e28872. doi: 10.1371/journal.pone.0028872.
16. Arrington CB, Bleyl SB, Matsunami N, Bonnell GD, Otterud BE, Nielsen DC, Stevens J, Levy S, Leppert MF, Bowles NE. Exome analysis of a family with pleiotropic congenital heart disease. Circ Cardiovasc Genet. 2012;5:175-182. doi: 10.1161/CIRCGENETICS.111.961797.
17. den Hoed M, Eijgelsheim M, Esko T, Brundel BJ, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, Westra HJ, Johnson T, Isaacs A, Yang J, Lundby A, Zhao JH, Kim YJ, Go MJ, Almgren P, Bochud M, Boucher G, Cornelis MC, Gudbjartsson D, Hadley D, van der Harst P, Hayward C, den Heijer M, Igl W, Jackson AU, Kutalik Z, Luan J, Kemp JP, Kristiansson K, Ladenvall C, Lorentzon M, Montasser ME, Njajou OT, O'Reilly PF, Padmanabhan S, St Pourcain B, Rankinen T, Salo P, Tanaka T, Timpson NJ, Vitart V, Waite L, Wheeler W, Zhang W, Draisma HH, Feitosa MF, Kerr KF, Lind PA, Mihailov E, Onland-Moret NC, Song C, Weedon MN, Xie W, Yengo L, Absher D, Albert CM, Alonso A, Arking DE, de Bakker PI, Balkau B, Barlassina C, Benaglio P, Bis JC, Bouatia-Naji N, Brage S, Chanock SJ, Chines PS, Chung M, Darbar D, Dina C, Dörr M, Elliott P, Felix SB, Fischer K, Fuchsberger C, de Geus EJ, Goyette P, Gudnason V, Harris TB, Hartikainen AL, Havulinna AS, Heckbert SR, Hicks AA, Hofman A, Holewijn S, Hoogstra-Berends F, Hottenga JJ, Jensen MK, Johansson A, Junttila J, Kaäb S, Kanon B, Ketkar S, Khaw KT, Knowles JW, Kooner AS, Kors JA, Kumari M, Milani L, Laiho P, Lakatta EG, Langenberg C, Leusink M, Liu Y, Luben RN, Lunetta KL, Lynch SN, Markus MR, Marques-Vidal P, Mateo Leach I, McArdle WL, McCarroll SA, Medland SE, Miller KA, Montgomery GW, Morrison AC, Müller-Nurasyid M, Navarro P, Nelis M, O'Connell JR, O'Donnell CJ, Ong KK, Newman AB, Peters A, Polasek O, Pouta A, Pramstaller PP, Psaty BM, Rao DC, Ring SM, Rossin EJ, Rudan D, Sanna S, Scott RA, Sehmi JS, Sharp S, Shin JT, Singleton AB, Smith AV, Soranzo N, Spector TD, Stewart C, Stringham HM, Tarasov KV, Uitterlinden AG, Vandenput L, Hwang SJ, Whitfield JB, Wijmenga C, Wild SH, Willemsen G, Wilson JF, Witteman JC, Wong A, Wong Q, Jamshidi Y, Zitting P, Boer JM, Boomsma DI, Borecki IB, van Duijn CM, Ekelund U, Forouhi NG, Froguel P, Hingorani A, Ingelsson E, Kivimaki M, Kronmal RA, Kuh D, Lind L, Martin NG, Oostra BA, Pedersen NL, Quertermous T, Rotter JI, van der Schouw YT, Verschuren WM, Walker M, Albanes D, Arnar DO, Assimes TL, Bandinelli S, Boehnke M, de Boer RA, Bouchard C, Caulfield WL, Chambers JC, Curhan G, Cusi D, Eriksson J, Ferrucci L, van Gilst WH, Glorioso N, de Graaf J, Groop L, Gyllensten U, Hsueh WC, Hu FB, Huikuri HV, Hunter DJ, Iribarren C, Isomaa B, Jarvelin MR, Jula A, Kähönen M, Kiemeney LA, van der Klauw MM, Kooner JS, Kraft P, Iacoviello L, Lehtimäki T, Lokki ML, Mitchell BD, Navis G, Nieminen MS, Ohlsson C, Poulter NR, Qi L, Raitakari OT, Rimm EB, Rioux JD, Rizzi F, Rudan I, Salomaa V, Sever PS, Shields DC, Shuldiner AR, Sinisalo J, Stanton AV, Stolk RP, Strachan DP, Tardif JC, Thorsteinsdottir U, Tuomilehto J, van Veldhuisen DJ, Virtamo J, Viikari J, Vollenweider P, Waeber G, Widen E, Cho YS, Olsen JV, Visscher PM, Willer C, Franke L, Erdmann J, Thompson JR, Pfeufer A, Sotoodehnia N, Newton-Cheh C, Ellinor PT, Stricker BH, Metspalu A, Perola M, Beckmann JS, Smith GD, Stefansson K, Wareham NJ, Munroe PB, Sibon OC, Milan DJ, Snieder H, Samani NJ, Loos RJ; Global BPgen Consortium; CARDIoGRAM Consortium; PR GWAS Consortium; QRS GWAS Consortium; QT-IGC Consortium; CHARGE-AF Consortium. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013;45:621-631. doi: 10.1038/ng.2610.
18. Holm H, Gudbjartsson DF, Arnar DO, Thorleifsson G, Thorgeirsson G, Stefansdottir H, Gudjonsson SA, Jonasdottir A, Mathiesen EB, Njølstad I, Nyrnes A, Wilsgaard T, Hald EM, Hveem K, Stoltenberg C, Løchen ML, Kong A, Thorsteinsdottir U, Stefansson K. Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet. 2010;42:117-122. doi: 10.1038/ng.511.
19. Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Müller M, Morrison AC, Smith AV, Isaacs A, Sanna S, Dörr M, Navarro P, Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC, Rückert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F, Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA, Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C, Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D, Völzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM, Wichmann HE, Harris TB, Kaäb S, Siscovick DS, Jamshidi Y, Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW, Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB, Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E, O'Donnell CJ. Genome-wide association analysis identifies multiple loci related to resting heart rate. Hum Mol Genet. 2010;19:3885-3894. doi: 10.1093/hmg/ddq303.
20. Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet. 2011;43:316-320. doi: 10.1038/ng.781.
21. Singleman C, Holtzman NG. Analysis of postembryonic heart development and maturation in the zebrafish, Danio rerio. Dev Dyn. 2012;241:1993-2004. doi: 10.1002/dvdy.23882.
22. Abe K, Machida T, Sumitomo N, Yamamoto H, Ohkubo K, Watanabe I, Makiyama T, Fukae S, Kohno M, Harrell DT, Ishikawa T, Tsuji Y, Nogami A, Watabe T, Oginosawa Y, Abe H, Maemura K, Motomura H, Makita N. Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. Circ Arrhythm Electrophysiol. 2014;7:511-517. doi: 10.1161/CIRCEP.113.001340.
23. Turner DL, Weintraub H. Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate. Genes Dev. 1994;8:1434-1447.
24. Rupp RA, Snider L, Weintraub H. Xenopus embryos regulate the nuclear localization of XMyoD. Genes Dev. 1994;8:1311-1323.
25. Arimura T, Ishikawa T, Nunoda S, Kawai S, Kimura A. Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum Mutat. 2011;32:1481-1491. doi: 10.1002/humu.21603.
26. White SM, Constantin PE, Claycomb WC. Cardiac physiology at the cellular level: use of cultured HL-1 cardiomyocytes for studies of cardiac muscle cell structure and function. Am J Physiol Heart Circ Physiol. 2004;286:H823-H829. doi: 10.1152/ajpheart.00986.2003.
27. Berdougo E, Coleman H, Lee DH, Stainier DY, Yelon D. Mutation of weak atrium/atrial myosin heavy chain disrupts atrial function and influences ventricular morphogenesis in zebrafish. Development. 2003;130:6121-6129. doi: 10.1242/dev.00838.
28. Kimmel CB, Ballard WW, Kimmel SR, Ullmann B, Schilling TF. Stages of embryonic development of the zebrafish. Dev Dyn. 1995;203:253-310. doi: 10.1002/aja.1002030302.
29. Kunst G, Kress KR, Gruen M, Uttenweiler D, Gautel M, Fink RH. Myosin binding protein C, a phosphorylation-dependent force regulator in muscle that controls the attachment of myosin heads by its interaction with myosin S2. Circ Res. 2000;86:51-58.
30. Palmer BM, Georgakopoulos D, Janssen PM, Wang Y, Alpert NR, Belardi DF, Harris SP, Moss RL, Burgon PG, Seidman CE, Seidman JG, Maughan DW, Kass DA. Role of cardiac myosin binding protein C in sustaining left ventricular systolic stiffening. Circ Res. 2004;94:1249-1255. doi: 10.1161/01.RES.0000126898.95550.31.
31. Hughes SE, McKenna WJ. New insights into the pathology of inherited cardiomyopathy. Heart. 2005;91:257-264. doi: 10.1136/hrt.2004.040337.
32. Bahrudin U, Morikawa K, Takeuchi A, Kurata Y, Miake J, Mizuta E, Adachi K, Higaki K, Yamamoto Y, Shirayoshi Y, Yoshida A, Kato M, Yamamoto K, Nanba E, Morisaki H, Morisaki T, Matsuoka S, Ninomiya H, Hisatome I. Impairment of ubiquitin-proteasome system by E334K cMyBPC modifies channel proteins, leading to electrophysiological dysfunction. J Mol Biol. 2011;413:857-878. doi: 10.1016/j. jmb.2011.09.006.
33. Chandler NJ, Greener ID, Tellez JO, Inada S, Musa H, Molenaar P, Difrancesco D, Baruscotti M, Longhi R, Anderson RH, Billeter R, Sharma V, Sigg DC, Boyett MR, Dobrzynski H. Molecular architecture of the human sinus node: insights into the function of the cardiac pacemaker. Circulation. 2009;119:1562-1575. doi: 10.1161/CIRCULATIONAHA.108.804369.
34. Yamamoto M, Dobrzynski H, Tellez J, Niwa R, Billeter R, Honjo H, Kodama I, Boyett MR. Extended atrial conduction system characterised by the expression of the HCN4 channel and connexin45. Cardiovasc Res. 2006;72:271-281. doi: 10.1016/j.cardiores.2006.07.026.
35. Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994;93:280-285. doi: 10.1172/JCI116957.