Golubenko Maria, Mikhailov Vadim, Rusinova Valeria, Shestak Anna, Zaklyazminskaya Elena
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.
Biomed Rep. 2020 Sep;13(3):16. doi: 10.3892/br.2020.1324. Epub 2020 Jul 2.
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.
Brugada综合征（BrS）是一种遗传性疾病，其特征为右胸前导联出现特异性ST段抬高、假性右束支传导阻滞，以及因室性心动过速导致的心源性猝死风险较高。它最初被描述为一种具有常染色体显性遗传模式的单基因疾病。据推测，除致病突变外，修饰基因因素可能对临床症状和心源性猝死风险有显著影响。这些修饰因素可包括线粒体DNA（mtDNA）变异。特别是，mtDNA的m.T4216C、m.A11251G、m.C15452A和m.T16126C变异（定义单倍群T和J）的组合，被认为是促进BrS表现的一个因素，且无促心律失常作用。本研究的目的是在一组俄罗斯患者中证实所报道的BrS与mtDNA变异之间的关联。对47名俄罗斯BrS先证者进行了mtDNA单倍群基因分型，并将常见mtDNA单倍群的患病率与俄罗斯欧洲部分的普通人群进行了比较。除J mtDNA单倍群外，所有其他单倍群在BrS先证者和俄罗斯普通人群中的分布和患病率相当。在BrS队列中未发现线粒体J单倍群。总之，研究表明，mtDNA多态性m.T4216C（单倍群J和T）对俄罗斯患者BrS的临床表现没有显著影响。
