Brugada syndrome (BrS) is a rare genetic arrhythmic disorder with a complex model of transmission. At least 20 different genes have been identified as BrS-causal or susceptibility genes. Of these, SCN5A is the most frequently mutated. Coregulation of different mutations or genetic variants, including mitochondrial DNA (mtDNA), may contribute to the clinical phenotype of the disease. In the present study, we analysed the mitochondrial genome of a symptomatic BrS type 1 patient to investigate a possible mitochondrial involvement recently found in the arrhytmogenic diseases. No pathogenic mutation was identified; however, a high number of single-nucleotide polymorphisms were found ( n =21) and some of them were already been reported in molecular autopsy case for sudden death. The results reported here further support our hypothesis on the potential role of mtDNA polymorphisms in mitochondrial dysfunction, which may represent a risk factor for arrhythmogenic disease.

中文翻译：

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有症状的 Brugada 综合征 1 型患者的大量“天然”线粒体 DNA 多态性

Brugada 综合征 (BrS) 是一种罕见的遗传性心律失常疾病，具有复杂的传播模型。至少有 20 种不同的基因已被鉴定为 BrS 因果或易感基因。其中，SCN5A 是最常发生突变的。不同突变或遗传变异的协同调节，包括线粒体 DNA (mtDNA)，可能导致该疾病的临床表型。在本研究中，我们分析了一名有症状的 BrS 1 型患者的线粒体基因组，以研究最近在致心律失常疾病中发现的可能的线粒体受累。未发现致病突变；然而，发现了大量的单核苷酸多态性（n = 21），其中一些已经在分子尸检案例中报告了猝死。