Volume 8, Issue 2 (2017)                   JMBS 2017, 8(2): 1-13 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Study the presence of possible mutations caused HCM disease in exons 8, 9 and 30 of MYH7 gene in Chahar Mahal Va Bakhtyari Province. JMBS 2017; 8 (2) :1-13
URL: http://biot.modares.ac.ir/article-22-657-en.html
Abstract:   (8785 Views)
Introduction: Hypertrophic cardiomyopathy (HCM) is a rare cardiac disorder which can result in sudden death in young people. Molecular studies have been showed that mutations in the beta-myosin heavy chain (MYH7) gene are one of the most common genetic causes of HCM. The aim of this research was to study exons 8, 9, and 30 of MYH7 gene for possible mutation in HCM patients from Chahar Mahal va Bakhtyari Province.
Material and Methods: In this descriptive-laboratory study, DNA was extracted from 27 blood samples by phenol-chloroform method. DNA samples were then used for PCR-SSCP analysis for amplification and identification of mutation. The Suspected cases with possibility of having mutation were sequenced and the results were observed by Chromas software.
Results: 7 suspected cases recognized by PCR_SSCP were sequenced with forward and reverse primers to verify the presence of mutation.

Conclusion: Mutations in these exons do not have a role in establishment of disease in the studied population. However, study greater number of HCM cases and other exons of this gene are recommended to find the relationship between gene and HCM and to gain necessary information for treatment and management of disease.
Full-Text [PDF 510 kb]   (4392 Downloads)    
Article Type: Research Paper | Subject: Agricultural Biotechnology
Received: 2015/04/13 | Accepted: 2017/09/23 | Published: 2018/01/27

References
1. Maron B. Hypertrophic Cardiomyopathy: A Systematic Review. Clinical cardiology 2002;287:1308-20.
2. Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, et al. Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene. Circulation: Cardiovascular Genetics. 2013;6:543-51.
3. Watkins H, Thierfelder L, Hwang D, McKenna W, Seidman J, Seidman C. Sporadic Hypertrophic Cardiomyopathy Due to De Novo Myosin Mutations. Journal of clinical investigation. 1992;90:1666-71
4. S M. Sarcomeric proteins and inherited cardiomyopathies. Cardiovascular Research. 2008;77:659-66
5. Richard P, Villard E, Charron P, Isnard R. TheGenetic Bases of Cardiomyopathies. American College of Cardiology.2006;48:A79-A89
6. Marian A. Modifier genes for hypertrophic cardiomyopathy. CurrentOpinion inCardiology. 2002;17:242-52.
7. Walsh R, Rutland C, Thomas R, Loughna S. Cardiomyopathy: A Systematic Review of Disease-Causing Mutations in Myosin Heavy Chain 7 and Their Phenotypic Manifestations. Cardiology.2010;115:49–60
8. Kitaoka H, Kubo T, Okawa M, Takenaka N, Baba Y, Yamasaki N, et al. Plasma metalloproteinase levels and left ventricular remodeling in hypertrophic cardiomyopathy in patients with an identical mutation. Journal ofCardiology. 2011;58:261-5.
9. Ashrafian H, McKenna W, Watkins H. Disease Pathways and Novel Therapeutic Targets in Hypertrophic Cardiomyopathy. Circulation Research.2011;109:86-96.
10. Bobkowski W, Sobieszczañska M, TurskaKmieæ A, Nowak A, Jagielski J, Gonerska M, et al. Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome. Journal of Applied Genetics. 2007;48:185-8
11. Wheeler M,Pavlovic A, DeGoma E, Salisbury H, Brown C, Ashley E. A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy.Journal of Cardiovascular Translational Research. 2009;2:381-91.
12. Dimitrow P, Chojnowska L, Rudzinski T, Piotrowski W, Ziołkowska L, Wojtarowicz A, et al. Sudden death in hypertrophic cardiomyopathy: old risk factors re-assessed in a new model of maximalized follow-up. European Heart Journal.2010;31:3084-93
13. Driest SV, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, et al. Comprehensive Analysis of the Beta-Myosin Heavy Chain Gene in 389 Unrelated Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology. 2004;44:602-10
14. Tanjore R, RangaRaju A, Vadapalli S, Remersu S, Narsimhan C, Nallari P. Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy. Indian Journal of Human Genetics. 2010;16(2):67-71.
15. Mora R, Merino JL, Peinado R, Olias F, García-Guereta L, del Cerro MJ, et al. Hypertrophic Cardiomyopathy: Infrequent Mutationof the Cardiac Beta-Myosin Heavy-Chain Gene. Revista Española de Cardiología (English Version). 2006;59(08):846-9.
16. Armel TZ, Leinwand LA. Mutations in the β-myosin rod cause myosin storage myopathy via multiple mechanisms. Proceedings of the National Academy of Sciences of the United States of America. 2009;106(15):6291-6.
17. Wolny M, Colegrave M, Colman L, White E,Knight PJ, Peckham M. Cardiomyopathy Mutations in the Tail of β-Cardiac Myosin Modify the Coiled-coil Structure and Affect Integration into ThickFilaments in Muscle Sarcomeres in Adult Cardiomyocytes. The Journal of Biological Chemistry. 2013;288(44):31952-62.
18. Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, et al. Mutations of the Light Meromyosin Domain of the β-Myosin Heavy Chain Rod in Hypertrophic Cardiomyopathy. Circulation Research. 2002;90(3):263-9.
19. Havndrup O, Bundgaard H, Andersen P, Larsen L, Vuust J, Kjeldsen K, et al. Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy withfocus on cardiac β-myosin gene mutations Cardiovascular Research. 2003;57:347-57
20. GarciaCastro M, Coto E, Reguero J, Berrazueta J, Alvarez V, Alonso B, et al. Mutations in Sarcomeric Genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in Patients With HypertrophicCardiomyopathy.Revista Española de Cardiología. 2009;62(1):48-56
21. Havndrup O, Bundgaarda H, Andersen P, Larsen L, Vuust J, Kjeldsen K, et al. Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac b-myosin gene mutations. Cardiovascular Research. 2003;57:347–357.
22. Maron B, Maron M, Semsarian C. Genetics of Hypertrophic Cardiomyopathy After 20 Years: Clinical Perspectives. Journal of the American College of Cardiology. 2012;60:705-15
23. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic Cardiomyopathy: Distribution of Disease Genes, Spectrum Of Mutations, and Implications for a Molecular Diagnosis Strategy. Circulation.2003;107:2227-32.
24. tajshahri H, oldfores A. myosinopathies: pathology and mechanism. acta neuropathologica.2013;125:3-18.
25. GarciaCastro M, Reguero J, Batalla A, azMolina B, lez P, Alvarez V, et al. Hypertrophic Cardiomyopathy: Low Frequency of Mutations in the β-Myosin Heavy Chain (MYH7) and Cardiac Troponin T (TNNT2) Genes among Spanish Patients. Clinical Chemistry. 2003;49(8):1279-85
26. Cotiga D, Ehlert F, Sherrid M. Syncope, other risk factors, and the implantable defibrillator for sudden death prevention in hypertrophic cardiomyopathy. The Anatolian Journal of Cardiology. 2006;6:55-60.
27. Taylor M, Carniel E, MestroniL. Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing.expert review of molecular diagnostics. 2004;4:99-113.
28. Gasser RB, Hu M, Chilton NB, CampbellBE, Jex AJ, Otranto D, et al. Single-strand conformation polymorphism (SSCP) for the analysis of genetic variation. NatureProtocols. 2007;1(6):3121-8.
29. Heydari S, Khaledifar A, Pourahmad R, Hashemzadeh-Chaleshtori M, Heydari S, Bagheri N, et al. Investigation of mutations in exons 19-23 MYH7 gene in hypertrophic cardiomyopathy patients using PCR-SSCP/HA technique in Chaharmahal va Bakhtiari province. Journal of Shahrekord University of Medical Sciences. 2013;15(4):35-44.
30. Heydari S, Pourahmad R, Khaledifar A, Hashemzadeh M, Amini Z, Badfar S, et al. Investigationof Mutations in Exons 12-15 MYH7 Gene in Hypertrophic Cardiomyopathie Patients Using PCR-SSCP Technique.Zahedan Journal of Research in Medical Sciences. 2013;15(10):16-20.
31. Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, et al. Prevalence and Severity of “Benign” Mutations in the β-Myosin Heavy Chain, Cardiac Troponin T, and α-Tropomyosin Genes in Hypertrophic Cardiomyopathy. Circulation. 2002;106(24):3085-90.
32. Moolman-Smook JC,DeLange WJ, Bruwer ECD, Brink PA, Corfield VA. The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder Events. American Journal of Human Genetics. 1999;65(5):1308-20.
33. Brito D, Miltenberger-Miltenyi G, Pereira SV, Silva D, Diogo A, Madeira H. Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.Revista portuguesa de cardiologia. 2012 31(9):577-87
34. Hougs L, Havndrup O, Bundgaard H, KoberL, Vuust J, Larsen LA, et al. One third of Danish hypertrophic cardiomyopathy patients haveHougs L, Havndrup O, Bundgaard H, KoberL, Vuust J, Larsen LA, et al. One third of Danish hypertrophic cardiomyopathy patients have
35. Coto E, Reguero J, Palacín M, Gómez J, Alonso B, Iglesias S, et al. Resequencing the Whole MYH7 Gene (Including the Intronic, Promoter, and 3′ UTR Sequences) in Hypertrophic Cardiomyopathy.Journal of molecular diagnostics. 2012;14(5):518-24.
36. MarsigliaI JC, BatitucciI MP, PaulaI; Fd, BarbiratoI C, ArteagaII E, Araújo AQd. Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil. Arquivos Brasileiros de Cardiologia. 2010;94:7-10
37. Montazeri M, Houshmand M, Mandeger M, GhaniKakhki M, Estahbanati G, Nouhi F, et al., editors. Investigations of hot spot regions in MYH7 genes in Iranian hypertrophic cardiomyopathy patients. Proceeding of the 4PthP national biotechnology congress.2005; Kerman University of Medical Sciences
38. Taborsky M. Sample size in the study of behaviour. Ethology.2010;116:185-202.

Add your comments about this article : Your username or Email:
CAPTCHA

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.