Complete mitochondrial DNA profile in stroke: A geographical matched case-control study in Spanish population

Complete mitochondrial DNA profile in stroke: A geographical matched case-control study in Spanish population

•The complete mtDNA profile of stroke patients from Castilla y León, studied by Next Generation Sequencing, is reported.•The analysed samples with stroke history do not have any other cardiovascular comorbidity.•Mitochondrial macrohaplogroup R0 (Hg V) could potentially play a protective role in rela...

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Published in:Mitochondrion Vol. 73; pp. 51 - 61
Main Authors: Onieva, Ana, Martin, Joan, R. Cuesta-Aguirre, Daniel, Planells, Violeta, Coronado-Zamora, Marta, Beyer, Katrin, Vega, Tomás, Lozano, José Eugenio, Santos, Cristina, Aluja, Maria Pilar
Format: Journal Article
Language:English
Published: Netherlands Elsevier B.V 01-11-2023
Subjects:
Case-Control Studies
DNA, Mitochondrial - genetics
Genetic Predisposition to Disease
Haplotypes
Humans
Mitochondria - genetics
Mitochondrial DNA
Mitochondrial DNA copy number
Mitochondrial haplogroups
Reactive Oxygen Species
Stroke
Stroke - genetics
Mitochondrial DNA copy number
Stroke
Mitochondrial DNA
Mitochondrial haplogroups
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Summary:•The complete mtDNA profile of stroke patients from Castilla y León, studied by Next Generation Sequencing, is reported.•The analysed samples with stroke history do not have any other cardiovascular comorbidity.•Mitochondrial macrohaplogroup R0 (Hg V) could potentially play a protective role in relation to stroke risk.•Variants m.73A>G, m.11719G>A and m.14766C>T appear to increase risk of this disease.•Our results do not support an association between mtDNA-CN and stroke risk. 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. 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. 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. These results demonstrate the possible role of mtDNA genetics on the pathogenesis of stroke, probably through alterations in mitochondrial ROS production.
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ISSN:1567-7249
1872-8278
DOI:10.1016/j.mito.2023.10.001