Introduction

Stroke, the second leading cause of death worldwide, is a complex disease influenced by many risk factors among which we can find reactive oxygen species (ROS). Since mitochondria are the main producers of cellular ROS, nowadays studies are trying to elucidate the role of these organelles and its DNA (mtDNA) variation in stroke risk. The aim of the present study was to perform a comprehensive evaluation of the association between mtDNA mutations and mtDNA content and stroke risk.

Material and methods

Homoplasmic and heteroplasmic mutations of the mtDNA were analysed in a case-controls study using 110 S cases and their corresponding control individuals. Mitochondrial DNA copy number (mtDNA-CN) was analysed in 73 of those case-control pairs.

Results

Our results suggest that haplogroup V, specifically variants m.72C > T, m.4580G > A, m.15904C > T and m.16298 T > C have a protective role in relation to stroke risk. On the contrary, variants m.73A > G, m.11719G > A and m.14766C > T appear to be genetic risk factors for stroke. In this study, we found no statistically significant association between stroke risk and mitochondrial DNA copy number.

Conclusions

These results demonstrate the possible role of mtDNA genetics on the pathogenesis of stroke, probably through alterations in mitochondrial ROS production.

中文翻译：

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中风的完整线粒体 DNA 谱：西班牙人群的地理匹配病例对照研究

介绍

中风是全球第二大死亡原因，是一种复杂的疾病，受到许多危险因素的影响，其中我们可以找到活性氧（ROS）。由于线粒体是细胞 ROS 的主要产生者，目前的研究正试图阐明这些细胞器及其 DNA (mtDNA) 变异在中风风险中的作用。本研究的目的是对 mtDNA 突变与 mtDNA 含量和中风风险之间的关联进行综合评估。

材料与方法

在一项病例对照研究中，使用 110 个 S 病例及其相应的对照个体对 mtDNA 的同质和异质突变进行了分析。对其中 73 个病例对照对的线粒体 DNA 拷贝数 (mtDNA-CN) 进行了分析。

结果

我们的结果表明，单倍群 V，特别是变体 m.72C > T、m.4580G > A、m.15904C > T 和 m.16298 T > C 对中风风险具有保护作用。相反，变异 m.73A > G、m.11719G > A 和 m.14766C > T 似乎是中风的遗传危险因素。在这项研究中，我们发现中风风险和线粒体 DNA 拷贝数之间没有统计学上的显着关联。

结论

这些结果证明了线粒体 DNA 遗传学在中风发病机制中的可能作用，可能是通过改变线粒体 ROS 产生来实现的。