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The association of the MYH7 gene R249Q mutation with sudden cardiac death

https://doi.org/10.1234/XXXX-XXXX-2016-4-43-45

Abstract

The aim of the study is investigation of the association between the MYH7 gene R249Q (rs3218713) mutation and sudden cardiac death (SCD). Materials and methods. The SCD group was formed using WHO criteria for sudden cardiac death (n = 379, mean age 53,2 ± 8,7 years, men - 70.9%, women - 29.1%), the control group was selected according to sex and age from the DNA bank of HAPIEE, MONICA (n = 377, mean age 53,1 ± 8,3 years, men - 68.3%, 31.7% of women). DNA was isolated by phenol-chloroform extraction of the myocardial tissue of persons who died of sudden cardiac death, and venous blood of the persons included in the control group. Genotyping was done by PCR followed by analysis of restriction fragment length polymorphism. Results. In the SCD and control groups were not found carriers of the rare allele A of the MYH7 gene R249Q mutation. Conclusions. The MYH7 gene R249Q mutation is not associated with the SCD in the sample suddenly deceased residents of Novosibirsk.

About the Authors

A. A. Ivanova
Institution of Internal and Preventive Medicine
Russian Federation


V. N. Maksimov
Institution of Internal and Preventive Medicine; Novosibirsk State Medical University
Russian Federation


S. V. Savchenko
Novosibirsk State Medical University; Novosibirsk Regional Office of Forensic Medical Examination
Russian Federation


M. I. Voevoda
Institution of Internal and Preventive Medicine; Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences
Russian Federation


References

1. Martens E, Sinner MF, Siebermair J et al. Incidence of sudden cardiac death in Germany: results from an emergency medical service registry in LowerSaxony. Europace.2014;16(12):1752-1758.

2. Priori SG, Aliot E, Blшmstrom-Lundqvist C et al. Task Force on Sudden Cardiac Death,European Society of Cardiology. Summary of Recommendations. Europace. 2002;4:3-18.

3. Narula N, Tester DJ, Paulmichl A et al. Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series. Pediatr Cardiol. 2015;36(4):768-78.

4. Hertz CL, Christiansen SL, Ferrero-Miliani L et al. Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015;129(4):793-800.

5. Brion M, Blanco-Verea A, Sobrino B et al. Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014; 35(21-22): 3111-6.

6. Loporcaro CG, Tester DJ, Maleszewski JJ et al. Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. Arch Pathol Lab Med. 2014;138(8):1083-9.

7. Blair E, Redwood C, de Jesus Oliveira M et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002;90(3):263-9.

8. Watkins H, Rosenzweig A, Hwang DS et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326(17):1108-14.

9. Woo A, Rakowski H, Liew JC et al. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart. 2003;89(10):1179-85.

10. Greber-Platzer S, Marx M, Fleischmann C et al. Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. J Mol Cell Cardiol. 2001;33(1):141-8.


Review

For citations:


Ivanova A.A., Maksimov V.N., Savchenko S.V., Voevoda M.I. The association of the MYH7 gene R249Q mutation with sudden cardiac death. Medical Genetics. 2016;15(4):43-45. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-4-43-45

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