Güler S, Gürkan H, Demir S
Department ofNeurology, Trakya University Faculty of Medicine, Edirne, Turkey.
Department ofGenetics, Trakya University Faculty of Medicine, Edirne, Turkey.
Hippokratia. 2020 Apr-Jun;24(2):59-65.
The molecular basis of migraines is still not completely understood. Over the last 30 years, mitochondrial dysfunction has been postulated as a potential mechanism in migraine pathogenesis. This study aimed to determine whether maternal mitochondrial variation was associated with migraines with aura.
In this cross-sectional study, 50 individuals, who had been diagnosed with migraines with aura between January 2016 and July 2018 in the Neurology Department of the University Medical Faculty, and 50 healthy controls were recruited. Genomic DNA was isolated from the Ethylenediaminetetraacetic acid (EDTA) blood samples of the patients and the controls using the Easy One automated DNA isolation system. Mitochondrial DNA (mtDNA) libraries were prepared according to the Nextera XT DNA library-preparation protocol, and they were sequenced on the MiSeq platform (Illumina Inc., San Diego, CA, USA).
In the patient and control groups' analysis, 13 mtDNA variations were determined to be significantly different (p <0.05). The CC genotype for variation was found to be higher in the patient group than the control group (p =0.001). The variation was significantly associated with the presence of neurological disease in the patient's family (p =0.043).
The present study is the first to demonstrate an association between mitochondrial dysfunction and the susceptibility to migraine with aura in individuals carrying the variation. Knowing the level of cytochrome C oxidase and oxidative phosphorylation corruption in these patients may be predictive in understanding the phenotype/genotype relationship. Thus, mtDNA variations may contribute to the pathogenesis of migraines with aura. HIPPOKRATIA 2020, 24(2): 59-65.
偏头痛的分子基础仍未完全明确。在过去30年里，线粒体功能障碍被认为是偏头痛发病机制中的一种潜在机制。本研究旨在确定母体线粒体变异是否与伴先兆偏头痛有关。
在这项横断面研究中，招募了50名于2016年1月至2018年7月期间在大学医学院神经科被诊断为伴先兆偏头痛的个体以及50名健康对照者。使用Easy One自动DNA提取系统从患者和对照者的乙二胺四乙酸（EDTA）血样中提取基因组DNA。根据Nextera XT DNA文库制备方案制备线粒体DNA（mtDNA）文库，并在MiSeq平台（美国加利福尼亚州圣地亚哥市Illumina公司）上进行测序。
在患者组和对照组的分析中，确定有13个mtDNA变异存在显著差异（p<0.05）。发现患者组中变异的CC基因型高于对照组（p = 0.001）。该变异与患者家族中神经系统疾病的存在显著相关（p = 0.043）。
本研究首次证明携带该变异的个体中线粒体功能障碍与伴先兆偏头痛易感性之间存在关联。了解这些患者中细胞色素C氧化酶水平和氧化磷酸化损伤情况可能有助于理解表型/基因型关系。因此，mtDNA变异可能参与伴先兆偏头痛的发病机制。《希波克拉底》2020年，24(2): 59 - 65。
