Key result
Specific mtDNA variants are linked to altered stroke risk while copy number shows no association.
Why the study?
Mitochondria produce cellular reactive oxygen species that influence stroke risk, prompting a comprehensive evaluation of the association between mtDNA mutations, mtDNA content, and stroke risk.
Are specific mitochondrial DNA mutations and copy number associated with stroke risk in a Spanish population?
Case-Control (n=220)
Are specific mitochondrial DNA mutations and copy number associated with stroke risk in a Spanish population?
Specific mitochondrial DNA variants are associated with altered stroke risk, suggesting a role for mtDNA genetics in stroke pathogenesis.
mtDNA variants may inform stroke pathogenesis research; leaves open clinical utility pending prospective validation.
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.
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Onieva et al. (2023) conducted a case-control in Stroke (n=220). Mitochondrial DNA mutations and copy number vs. Matched controls was evaluated on Stroke risk. Specific mitochondrial DNA variants were associated with altered stroke risk, with haplogroup V showing a protective role and other variants increasing risk, while mtDNA copy number showed no association.
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