Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

Forensic Science International

Volumn 236, Issue , 2014, Pages 38-45

  Liu, Chao ^a   Tester, David J ^b   Hou, Yiding ^c   Wang, Wen ^c   Lv, Guoli ^a   Ackerman, Michael J ^b   Makielski, Jonathan C ^d   Cheng, Jianding ^c  

^a Guangzhou Forensic Science Institute   (China)

^b MAYO CLINIC   (United States)

^c SUN YAT SEN UNIVERSITY   (China)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Cardiac sodium channel subunits; GPD1 L gene; MOG1 gene; SCN5A gene; Sudden unexplained nocturnal death syndrome (SUNDS)

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL NAV1.5; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 2 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 3 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 4 SUBUNIT;

ADULT; ARTICLE; ASIAN; AUTOPSY; BLOOD SAMPLING; BRUGADA SYNDROME; CHINA; CHINESE HAN; CONTROLLED STUDY; DNA EXTRACTION; GENE; GENETIC ASSOCIATION; GENOTYPE; GPD1 L GENE; HUMAN; MAJOR CLINICAL STUDY; MEDICOLEGAL ASPECT; MISSENSE MUTATION; MOG1 GENE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCN1B GENE; SCN2B GENE; SCN3B GENE; SCN4B GENE; SCN5A GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP DISORDER; SODIUM CHANNELOPATHY; SUDDEN DEATH; SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME;

CARDIAC SODIUM CHANNEL Β SUBUNITS; GPD1-L GENE; MOG1 GENE; SCN5A GENE; SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME (SUNDS);

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHINA; DEATH, SUDDEN; ETHNIC GROUPS; EXONS; FORENSIC GENETICS; GENE FREQUENCY; GENETIC TESTING; GENOTYPE; GLYCEROLPHOSPHATE DEHYDROGENASE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POLYMORPHISM, SINGLE NUCLEOTIDE; RAN GTP-BINDING PROTEIN; SLEEP; VOLTAGE-GATED SODIUM CHANNEL BETA SUBUNITS; YOUNG ADULT;

EID: 84892659368     PISSN: 03790738     EISSN: 18726283     Source Type: Journal    
DOI: 10.1016/j.forsciint.2013.12.033     Document Type: Article

References (47)

1. Nademanee K., Veerakul G., Nimmannit S., Chaowakul V., Bhuripanyo K., Likittanasombat K., Tunsanga K., Kuasirikul S., Malasit P., Tansupasawadikul S., Tatsanavivat P. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997, 96:2595-2600.
2. Gaw A.C., Lee B., Gervacio-Domingo G., Antzelevitch C., Divinagracia R., Jocano F.J. Unraveling the enigma of bangungut: is sudden unexplained nocturnal death syndrome (SUNDS) in the Philippines a disease allelic to the Brugada syndrome. Philipp. J. Intern. Med. 2011, 49:165-176.
3. Nakajima K., Takeichi S., Nakajima Y., Fujita M.Q. Pokkuri death syndrome; sudden cardiac death cases without coronary atherosclerosis in South Asian young males. Forensic Sci. Int. 2011, 207:6-13.
4. Cheng J., Makielski J.C., Yuan P., Shi N., Zhou F., Ye B., Tan B.H., Kroboth S. Sudden unexplained nocturnal death syndrome in Southern China: an epidemiological survey and SCN5A gene screening. Am. J. Forensic Med. Pathol. 2011, 32:359-363.
5. Gervacio-Domingo G., Punzalan F.E., Amarillo M.L., Dans A. Sudden unexplained death during sleep occurred commonly in the general population in the Philippines: a sub study of the National Nutrition and Health Survey. J. Clin. Epidemiol. 2007, 60:567-571.
6. Tungsanga K., Sriboonlue P. Sudden unexplained death syndrome in north-east Thailand. Int. J. Epidemiol. 1993, 22:81-87.
7. Sangwatanaroj S., Prechawat S., Sunsaneewitayakul B., Sitthisook S., Tosukhowong P., Tungsanga K. New electrocardiographic leads and the procainamide test for the detection of the Brugada sign in sudden unexplained death syndrome survivors and their relatives. Eur. Heart J. 2001, 22:2290-2296.
8. Chen Q., Kirsch G.E., Zhang D., Brugada R., Brugada J., Brugada P., Potenza D., Moya A., Borggrefe M., Breithardt G., Ortiz-Lopez R., Wang Z., Antzelevitch C., O'Brien R.E., Schulze-Bahr E., Keating M.T., Towbin J.A., Wang Q. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392:293-296.
9. Mizusawa Y., Wilde A.A.M. Brugada syndrome. Circulation 2012, 5:606-616.
10. Vatta M., Dumaine R., Varghese G., Richard T.A., Shimizu W., Aihara N., Nademanee K., Brugada R., Brugada J., Veerakul G., Li H., Bowles N.E., Brugada P., Antzelevitch C., Towbin J.A. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Human Mol. Genet. 2002, 11:337-345.
11. Abriel H. Cardiac sodium channel na(v)1.5 and interacting proteins: physiology and pathophysiology. J. Mol. Cell. Cardiol. 2010, 48:2-11.
12. Kattygnarath D., Maugenre S., Neyroud N., Balse E., Ichai C., Denjoy I., Dilanian G., Martins R.P., Fressart V., Berthet M., Schott J.J., Leenhardt A., Probst V., Le Marec H., Hainque B., Coulombe A., Hatem S.N., Guicheney P. Mog1.: a new susceptibility gene for Brugada syndrome. Circ. Cardiovasc. Genet. 2011, 4:261-268.
13. + current and causes inherited arrhythmias. Circulation 2007, 116:2260-2268.
14. Wang Q., Li Z., Shen J., Keating M.T. Genomic organization of the human scn5a gene encoding the cardiac sodium channel. Genomics 1996, 34:9-16.
15. Clarke L., Zheng-Bradley X., Smith R., Kulesha E., Xiao C., Toneva I., Vaughan B., Preuss D., Leinonen R., Shumway M., Sherry S., Flicek P. The 1000 genomes project: data management and community access. Nat. Meth. 2012, 9:459-462.
16. Exome Variant Server NESPE, Seattle, WA. URL. (accessed 23.08.13). http://evs.gs.washington.edu/EVS/.
17. Exome Chip Design. (accessed 23.08.13).
18. Thorisson G.A., Smith A.V., Krishnan L., Stein L.D. The international hapmap project web site. Genome Res. 2005, 15:1592-1593.
19. Liang P., Liu W., Li C., Tao W., Li L., Hu D. Genetic analysis of Brugada syndrome and congenital long-qt syndrome type 3 in the Chinese. J. Cardiovasc. Dis. Res. 2010, 1:69-74.
20. Kapplinger J., Tester D., Alders M., Benito B., Berthet M., Brugada J., Brugada P., Fressart V., Guerchicoff A., Harris-Kerr C., Kamakura S., Kyndt F., Koopmann T., Miyamoto Y., Pfeiffer R., Pollevick G., Probst V., Zumhagen S., Vatta M., Towbin J., Shimizu W., Schulze-Bahr E., Antzelevitch C., Salisbury B., Guicheney P., Wilde A., Brugada R., Schott J., Ackerman M. An international compendium of mutations in the scn5a-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010, 7:33-46.
21. Kapa S., Tester D.J., Salisbury B.A., Harris-Kerr C., Pungliya M.S., Alders M., Wilde A.A., Ackerman M.J. Genetic testing for long-qt syndrome: distinguishing pathogenic mutations from benign variants. Circulation 2009, 120:1752-1760.
22. Rook M.B., Alshinawi C.B., Groenewegen W.A., Van Gelder I.C., Van Ginneken A.C., Jongsma H.J., Mannens M.M., Wilde A.A. Human scn5a gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res. 1999, 44:507-517.
23. Deschênes I., Baroudi G., Berthet M., Barde I., Chalvidan T., Denjoy I., Guicheney P., Chahine M. Electrophysiological characterization of scn5a mutations causing long qt (e1784k) and Brugada (r1512w and r1432g) syndromes. Cardiovasc. Res. 2000, 46:55-65.
24. Chen J.Z., Xie X.D., Wang X.X., Tao M., Shang Y.P., Guo X.G. Single nucleotide polymorphisms of the scn5a gene in Han Chinese and their relation with Brugada syndrome. Chinese Med. J. 2004, 11:652-656.
25. Fang D.H., Wu L.Q., Lu L., Lou S., Gu G., Chen Q.J., Pu L.J., Shen W.F. Association of human scn5a polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort. Circ. J. 2008, 72:592-597.
26. Hwang H.W., Chen J.J., Lin Y.J., Shieh R.C., Lee M.T., Hung S.I., Wu J.Y., Chen Y.T., Niu D.M., Hwang B.T. R1193q of scn5a, a Brugada and long qt mutation, is a common polymorphism in Han Chinese. J. Med. Genet. 2005, 42:e7. author reply e8.
27. Chen J., Xie X., Zhu J., Tao Q., Wang X. Single-nucleotide polymorphisms in scn5a gene in Chinese Han population and their correlation with cardiac arrhythmias. Genet. Med. 2004, 6:159.
28. Tanchaiswad W. Is sudden unexplained nocturnal death a breathing disorder. Psychiatr. Clin. Neurosci. 1995, 49:111-114.
29. Berne P., Brugada J. Brugada syndrome 2012. Circ. J. 2012, 76:1563-1571.
30. Miyasaka Y., Tsuji H., Yamada K., Tokunaga S., Saito D., Imuro Y., Matsumoto N., Iwasaka T. Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan. J. Am. Coll. Cardiol. 2001, 38:771-774.
31. Gervacio-Domingo G., Isidro J., Tirona J., Gabriel E., David G., Amarillo M.L., Morales D., Dans A. The Brugada type 1 electrocardiographic pattern is common among filipinos. J. Clin. Epidemiol. 2008, 61:1067-1072.
32. Takehara N., Makita N., Kawabe J., Sato N., Kawamura Y., Kitabatake A., Kikuchi K. A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill. J. Intern. Med. 2004, 255:137-142.
33. Hong K., Berruezo-Sanchez A., Poungvarin N., Oliva A., Vatta M., Brugada J., Brugada P., Towbin J.A., Dumaine R., Pinero-Galvez C., Antzelevitch C., Brugada R. Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in scn5a. J. Cardiovasc. Electrophysiol. 2004, 15:64-69.
34. Viswanathan P.C., Benson D.W., Balser J.R. A common scn5a polymorphism modulates the biophysical effects of an scn5a mutation. J. Clin. Invest. 2003, 111:341-346.
35. Tan H.L., Bink-Boelkens M.T., Bezzina C.R., Viswanathan P.C., Beaufort-Krol G.C., van Tintelen P.J., van den Berg M.P., Wilde A.A., Balser J.R. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001, 409:1043-1047.
36. Beltran-Alvarez P., Pagans S., Brugada R. The cardiac sodium channel is post-translationally modified by arginine methylation. J. Proteome Res. 2011, 10:3712-3719.
37. Chang C.C., Acharfi S., Wu M.H., Chiang F.T., Wang J.K., Sung T.C., Chahine M. A novel scn5a mutation manifests as a malignant form of long qt syndrome with perinatal onset of tachycardia/bradycardia. Cardiovasc. Res. 2004, 64:268-278.
38. Mok N.S., Priori S.G., Napolitano C., Chan K.K., Bloise R., Chan H.W., Fung W.H., Chan Y.S., Chan W.K., Lam C., Chan N.Y., Tsang H.H. Clinical profile and genetic basis of Brugada syndrome in the Chinese population. Hong Kong Med. 2004, 10:32-37.
39. Burashnikov E., Pfeiffer R., Barajas-Martinez H., Delpón E., Hu D., Desai M., Borggrefe M., Häissaguerre M., Kanter R., Pollevick G.D., Guerchicoff A., Laiño R., Marieb M., Nademanee K., Nam G.B., Robles R., Schimpf R., Stapleton D.D., Viskin S., Winters S., Wolpert C., Zimmern S., Veltmann C., Antzelevitch C. Mutations in the cardiac L-type calcium channel associated with inherited j-wave syndromes and sudden cardiac death. Heart Rhythm 2010, 7:1872-1882.
40. Giudicessi J.R., Ye D., Tester D.J., Crotti L., Mugione A., Nesterenko V.V., Albertson R.M., Antzelevitch C., Schwartz P.J., Ackerman M.J. Transient outward current (i(to)) gain-of-function mutations in the kcnd3-encoded kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 2011, 8:1024-1032.
41. Medeiros-Domingo A., Tan B.H., Crotti L., Tester D.J., Eckhardt L., Cuoretti A., Kroboth S.L., Song C., Zhou Q., Kopp D., Schwartz P.J., Makielski J.C., Ackerman M.J. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(Atp) channel kir6.1 as a pathogenic substrate for j-wave syndromes. Heart Rhythm 2010, 7:1466-1471.
42. Crotti L., Marcou C.A., Tester D.J., Castelletti S., Giudicessi J.R., Torchio M., Medeiros-Domingo A., Simone S., Will M.L., Dagradi F., Schwartz P.J., Ackerman M.J. Spectrum and prevalence of mutations involving brs1- through brs12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J. Am. Coll. Cardiol. 2012, 60:1410-1418.
43. Tani S., Hayashi K., Ino H., Fujino N., Tsuda T., Takamura M., Yamagishi M. Impact of gain-of-function gene variant of scn1b t189m, on occurrence of lone atrial fibrillation. J. Arrhythmia 2011, 27. OP18_14-OP18_14.
44. Zheng H., Wang X., Zhang J., Yang J., Huang Z. Association between distributions of component genotype of three sites of scn1b gene and epilepsy. Chinese J. Neurol. 2010, 43:110-114.
45. Nobili L., Proserpio P., Rubboli G., Montano N., Didato G., Tassinari C.A. Sudden unexpected death in epilepsy (SUDEP) and sleep. Sleep Med. Rev. 2011, 15:237-246.
46. Tester D., Medeiros-Domingo A., Will M., Haglund C., Ackerman M. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin. Proc. 2012, 87:524-539.
47. Liu C., Zhao Q., Su T., Tang S., Lv G., Liu H., Quan L., Cheng J. Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population. Forensic Sci. Int. 2013, 231:82-87.