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Article

Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome

  • Authors:
    • Maria Golubenko
    • Vadim Mikhailov
    • Valeria Rusinova
    • Anna Shestak
    • Elena Zaklyazminskaya
  • View Affiliations / Copyright

    Affiliations: Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Centre of The Russian Academy of Sciences, Tomsk 634050, Russia, Petrovsky National Research Centre of Surgery, Moscow 119991, Russia
  • Article Number: 16
    |
    Published online on: July 2, 2020
       https://doi.org/10.3892/br.2020.1324
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Abstract

Brugada syndrome (BrS) is an inherited disorder characterized by specific ST segment elevation in the right precordial leads, pseudo right bundle branch block, and a high risk of sudden cardiac death due to ventricular tachycardia. It was initially described as a monogenic disorder with an autosomal dominant mode of inheritance. It is hypothesized that modifying genetic factors, in addition to disease‑causing mutations, may significantly contribute to the clinical symptoms and the risk of sudden cardiac death. These modifying factors can include mitochondrial DNA (mtDNA) variants. In particular, combination of mtDNA m.T4216C, m.A11251G, m.C15452A and m.T16126C variants (defining haplogroups T and J), is considered to be a factor that promotes manifestation of BrS manifestation, with no pro‑arrhythmic effects. The aim of the present study was to confirm the reported association of BrS with MtDNA variants in a cohort of Russian patients. mtDNA haplogroups were genotyped in 47 Russian BrS probands and the prevalence of common mtDNA haplogroups was compared with the general population in European part of Russia. The distribution and prevalence of all but the J mtDNA haplogroups were comparable in BrS probands and the general Russian population. The mitochondrial J haplogroup was not found in the BrS cohort. In conclusion, it was shown that the mtDNA polymorphism, m.T4216C (haplogroups J and T) does not contribute significantly to the clinical manifestation of BrS in Russian patients.
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1 

Brugada P and Brugada J: Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 20:1391–1396. 1992.PubMed/NCBI View Article : Google Scholar

2 

Baranchuk A: Brugada Phenocopy. 1st Edition. The art of recognizing the Brugada ECG. Pattern Imprint: Academic Press. Published Date: pp154, 27th March 2018.

3 

Antzelevitch C and Patocskai B: Brugada syndrome: Clinical, genetic, molecular, cellular, and ionic aspects. Curr Probl Cardiol. 41:7–57. 2016.PubMed/NCBI View Article : Google Scholar

4 

Gourraud JB, Barc J, Thollet A, Le Scouarnec S, Le Marec H, Schott JJ, Redon R and Probst V: The Brugada syndrome: A rare arrhythmia disorder with complex inheritance. Front Cardiovasc Med. 3(9)2016.PubMed/NCBI View Article : Google Scholar

5 

Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, et al: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 15:1389–1406. 2013.PubMed/NCBI View Article : Google Scholar

6 

Brugada J, Brugada R and Brugada P: Pharmacological and device approach to therapy of inherited cardiac diseases associated with cardiac arrhythmias and sudden death. J Electrocardiol. 33 (Suppl):S41–S47. 2000.PubMed/NCBI View Article : Google Scholar

7 

Brugada P, Brugada R, Brugada J and Geelen P: Use of the prophylactic implantable cardioverter defibrillator for patients with normal hearts. Am J Cardiol. 83:98D–100D. 1999.PubMed/NCBI View Article : Google Scholar

8 

Rattanawong P, Ngarmukos T, Chung EH, Vutthikraivit W, Putthapiban P, Sukhumthammarat W, Vathesatogkit P and Sritara P: Prevalence of Brugada ECG pattern in Thailand from a population-based cohort study. J Am Coll Cardiol. 69:1355–1356. 2017.PubMed/NCBI View Article : Google Scholar

9 

Juang JM and Huang SK: Brugada syndrome-an underrecognized electrical disease in patients with sudden cardiac death. Cardiology. 101:157–169. 2004.PubMed/NCBI View Article : Google Scholar

10 

Shimizu W, Matsuo K, Kokubo Y, Satomi K, Kurita T, Noda T, Nagaya N, Suyama K, Aihara N, Kamakura S, et al: Sex hormone and gender difference-role of testosterone on male predominance in Brugada syndrome. J Cardiovasc Electrophysiol. 18:415–421. 2007.PubMed/NCBI View Article : Google Scholar

11 

Campuzano O, Brugada R and Iglesias A: Genetics of Brugada syndrome. Curr Opin Cardiol. 25:210–215. 2010.PubMed/NCBI View Article : Google Scholar

12 

Tafti MF, Khatami M, Rezaei S, Heidari MM and Hadadzadeh M: Novel and heteroplasmic mutations in mitochondrial tRNA genes in Brugada syndrome. Cardiol J. 25:113–119. 2018.PubMed/NCBI View Article : Google Scholar

13 

Stocchi L, Polidori E, Potenza L, Rocchi MB, Calcabrini C, Busacca P, Capalbo M, Potenza D, Amati F, Mango R, et al: Mutational analysis of mitochondrial DNA in Brugada syndrome. Cardiovasc Pathol. 25:47–54. 2016.PubMed/NCBI View Article : Google Scholar

14 

Bayés de Luna A, Brugada J, Baranchuk A, Borggrefe M, Breithardt G, Goldwasser D, Lambiase P, Riera AP, Garcia-Niebla J, Pastore C, et al: Current electrocardiographic criteria for diagnosis of Brugada pattern: A consensus report. J Electrocardiol. 45:433–442. 2012.PubMed/NCBI View Article : Google Scholar

15 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Associationfor Molecular Pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar

16 

Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM and Howell N: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 23(147)1999.PubMed/NCBI View Article : Google Scholar

17 

Morozova I, Evsyukov A, Kon'kov A, Grosheva A, Zhukova O and Rychkov S: Russian ethnic history inferred from mitochondrial DNA diversity. Am J Phys Anthropol. 147:341–351. 2012.PubMed/NCBI View Article : Google Scholar

18 

Greenberg BD, Newbold JE and Sugino A: Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene. 21:33–49. 1983.PubMed/NCBI View Article : Google Scholar

19 

Wallace DC: The mitochondrial genome in human adaptive radiation and disease: On the road to therapeutics and performance enhancement. Gene. 354:169–180. 2005.PubMed/NCBI View Article : Google Scholar

20 

Trivedi M, Goldstein A and Arora G: Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome. Cardiol Young. 28:1487–1488. 2018.PubMed/NCBI View Article : Google Scholar

21 

Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, et al: Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: An unrecognized clinical entity in young, asymptomatic adults. Eur Heart J. 37:2552–2559. 2016.PubMed/NCBI View Article : Google Scholar

22 

Montaigne D, Maréchal X, Lacroix D and Staels B: From cardiac mitochondrial dysfunction to clinical arrhythmias. Int J Cardiol. 184:597–599. 2015.PubMed/NCBI View Article : Google Scholar

23 

Tse G, Yan BP, Chan YW, Tian XY and Huang Y: Reactive oxygen species, endoplasmic reticulum stress and mitochondrial dysfunction: The link with cardiac arrhythmogenesis. Front Physiol. 7(313)2016.PubMed/NCBI View Article : Google Scholar

24 

Yang KC, Bonini MG and Dudley SC Jr: Mitochondria and arrhythmias. Free Radic Biol Med. 71:351–361. 2014.PubMed/NCBI View Article : Google Scholar

25 

Zhou L, Solhjoo S, Millare B, Plank G, Abraham MR, Cortassa S, Trayanova N and O'Rourke B: Effects of regional mitochondrial depolarization on electrical propagation: Implications for arrhythmogenesis. Circ Arrhythm Electrophysiol. 7:143–151. 2014.PubMed/NCBI View Article : Google Scholar

26 

Liu M, Liu H and Dudley SC Jr: Reactive oxygen species originating from mitochondria regulate the cardiac sodium channel. Circ Res. 107:967–974. 2010.PubMed/NCBI View Article : Google Scholar

27 

Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, et al: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet. 75:910–918. 2004.PubMed/NCBI View Article : Google Scholar

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Copy and paste a formatted citation
Spandidos Publications style
Golubenko M, Mikhailov V, Rusinova V, Shestak A and Zaklyazminskaya E: Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome. Biomed Rep 13: 16, 2020.
APA
Golubenko, M., Mikhailov, V., Rusinova, V., Shestak, A., & Zaklyazminskaya, E. (2020). Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome. Biomedical Reports, 13, 16. https://doi.org/10.3892/br.2020.1324
MLA
Golubenko, M., Mikhailov, V., Rusinova, V., Shestak, A., Zaklyazminskaya, E."Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome". Biomedical Reports 13.3 (2020): 16.
Chicago
Golubenko, M., Mikhailov, V., Rusinova, V., Shestak, A., Zaklyazminskaya, E."Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome". Biomedical Reports 13, no. 3 (2020): 16. https://doi.org/10.3892/br.2020.1324
Copy and paste a formatted citation
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Spandidos Publications style
Golubenko M, Mikhailov V, Rusinova V, Shestak A and Zaklyazminskaya E: Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome. Biomed Rep 13: 16, 2020.
APA
Golubenko, M., Mikhailov, V., Rusinova, V., Shestak, A., & Zaklyazminskaya, E. (2020). Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome. Biomedical Reports, 13, 16. https://doi.org/10.3892/br.2020.1324
MLA
Golubenko, M., Mikhailov, V., Rusinova, V., Shestak, A., Zaklyazminskaya, E."Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome". Biomedical Reports 13.3 (2020): 16.
Chicago
Golubenko, M., Mikhailov, V., Rusinova, V., Shestak, A., Zaklyazminskaya, E."Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome". Biomedical Reports 13, no. 3 (2020): 16. https://doi.org/10.3892/br.2020.1324
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