Is there an association between NC_012920.1: m.8277T> C mitochondrial variation the mt-NC7 locus, and migraine with aura?

BACKGROUND: 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. METHODS: 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). RESULTS: In the patient and control groups' analysis, 13 mtDNA variations were determined to be significantly different (p <0.05). The CC genotype for NC_012920.1: m.8277T>C variation was found to be higher in the patient group than the control group (p =0.001). The mtDNA NC_012920.1: m.8277T>C variation was significantly associated with the presence of neurological disease in the patient's family (p =0.043). CONCLUSIONS: The present study is the first to demonstrate an association between mitochondrial dysfunction and the susceptibility to migraine with aura in individuals carrying the NC_012920.1: m.8277T>C 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.