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Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies

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  • 1. Faculty of Life Science and Technology, Engineering Research Center of Molecular Medicine in Yunnan Province, Kunming University of Science and Technology, Kunming 650500, China;
    2. Department of Cardiology, First People's Hospital of Yunnan Province, Kunming 650032, China

Received date: 2014-09-28

  Revised date: 2015-01-07

  Online published: 2015-07-20

Abstract

Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment.

Cite this article

Yue Zhao, Hong Zhang, Xueshan Xia . Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies[J]. Hereditas(Beijing), 2015 , 37(7) : 635 -644 . DOI: 10.16288/j.yczz.14-326

References

[1] Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N Engl J Med , 2011, 364(17): 1643-1656.
[2] Maron BJ, Thompson PD, Ackerman MJ, Balady G, Berger S, Cohen D, Dimeff R, Douglas PS, Glover DW, Hutter AM Jr, Krauss MD, Maron MS, Mitten MJ, Roberts WO, Puffer JC. Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes: 2007 update: a scientific statement from the American Heart Association Council on Nutrition, Physical Activity, and Metabolism: endorsed by the American College of Cardiology Foundation. Circulation , 2007, 115(12): 1643-1655.
[3] Charles J, Pollack A, Miller G. Cardiomyopathy. Aust Fam Physician , 2014, 43(5): 253.
[4] Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O'Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P. Report of the 1995 world health organization/international society and federation of cardiology task force on the definition and classification of cardiomyopathies. Circulation , 1996, 93(5): 841-842.
[5] Hughes SE, McKenna WJ. New insights into the pathology of inherited cardiomyopathy. Heart , 2005, 91(2): 257-264.
[6] Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J , 2008, 29(2): 270-276.
[7] Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation , 1995, 92(4): 785-789.
[8] Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation , 2009, 119(8): 1085-1092.
[9] Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med , 1989, 321(20): 1372-1378.
[10] Force T, Bonow RO, Houser SR, Solaro RJ, Hershberger RE, Adhikari B, Anderson ME, Boineau R, Byrne BJ, Cappola TP, Kalluri R, LeWinter MM, Maron MS, Molkentin JD, Ommen SR, Regnier M, Tang WHW, Tian R, Konstam MA, Maron BJ, Seidman CE. Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. Circulation , 2010, 122(11): 1130-1133.
[11] Joiner MLA, Koval OM, Li JD, He BJ, Allamargot C, Gao Z, Luczak ED, Hall DD, Fink BD, Chen BY, Yang JL, Moore SA, Scholz TD, Strack S, Mohler PJ, Sivitz WI, Song LS, Anderson ME. CaMKII determines mitochondrial stress responses in heart. Nature , 2012, 491(7423): 269-273.
[12] Ashrafian H, Mckenna WJ, Watkins H. Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy. Circ Res , 2011, 109(1): 86-96.
[13] Olsson MC, Palmer BM, Stauffer BL, Leinwand LA, Moore RL. Morphological and functional alterations in ventricular myocytes from male transgenic mice with hypertrophic cardiomyopathy. Circ Res , 2004, 94(2): 201-207.
[14] Lakdawala NK, Winterfield JR, Funke BH. Dilated cardiomyopathy. Circ Arrhythm Electrophysiol , 2013, 6(1): 228-237.
[15] Codd MB, Sugrue DD, Gersh BJ, Melton LJ 3rd. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation , 1989, 80(3): 564-572.
[16] Komajda M, Jais JP, Reeves F, Goldfarb B, Bouhour JB, Juillieres Y, Lanfranchi J, Peycelon P, Geslin P, Carrie D, Grosgogeat Y. Factors predicting mortality in idiopathic dilated cardiomyopathy. Eur Heart J , 1990, 1(9): 824
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