ArticleScientific reports2020
The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
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- Mitochondrial and Nuclear DNA Variants in Amyotrophic Lateral Sclerosis: Enrichment in the Mitochondrial Control Region and Sirtuin Pathway Genes in Spinal Cord Tissue.Biomolecules · 2024Article
- Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases.PloS one · 2024Article
- Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence.Journal of clinical medicine · 2023Article
- Mitochondrial DNAFrontiers in ophthalmology · 2023Article
- Review
- Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy.International journal of legal medicine · 2022Article
- Mitochondrial Fusion, Fission, and Mitophagy in Cardiac Diseases: Challenges and Therapeutic Opportunities.Antioxidants & redox signaling · 2022Review
- Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.PLoS genetics · 2022Article
- The Role of Mitochondrial DNA Mutations in Cardiovascular Diseases.International journal of molecular sciences · 2022Review
- Article
- Mitochondrial DNA Is a Vital Driving Force in Ischemia-Reperfusion Injury in Cardiovascular Diseases.Oxidative medicine and cellular longevity · 2022Review
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- Protective Effects of Flavonoids Against Mitochondriopathies and Associated Pathologies: Focus on the Predictive Approach and Personalized Prevention.International journal of molecular sciences · 2021Review
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- Engineering Genetic Systems for Treating Mitochondrial Diseases.Pharmaceutics · 2021Review
- Side effects of omeprazole: a system biology study.Gastroenterology and hepatology from bed to bench · 2021Article
- Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.Metabolic brain disease · 2020Article
- Mitochondrial DNA damage in calf skeletal muscle and walking performance in people with peripheral artery disease.Free radical biology & medicine · 2020Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies associated certain type of cardiovascular disease (CVD) with specific mitochondrial DNA (mtDNA) defects, mainly driven by the central role of mitochondria in cellular metabolism. Considering the importance of the control region (CR) on the regulation of the mtDNA gene expression, the aim of the present study was to investigate the role of mtDNA CR mutations in two CVDs: stroke and myocardial infarction (MI). MtDNA CR mutations (both fixed and in heteroplasmy) were analysed in two demographically-matched case-control samples, using 154 stroke cases, 211 MI cases and their corresponding control individuals. Significant differences were found, reporting mutations m.16145 G > A and m.16311 T > C as potential genetic risk factors for stroke (conditional logistic regression: p = 0.038 and p = 0.018, respectively), whereas the m.72 T > C, m.73 A > G and m.16356 T > C mutations could act as possible beneficial genetic factors for MI (conditional logistic regression: p = 0.001, p = 0.009 and p = 0.016, respectively). Furthermore, our findings also showed a high percentage of point heteroplasmy in MI controls (logistic regression: p = 0.046; OR = 0.209, 95% CI [0.045-0.972]). These results demonstrate the possible role of mtDNA mutations in the CR on the pathogenesis of stroke and MI, and show the importance of including this regulatory region in genetic association studies.
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