ReviewBioMed research international2014
Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls.
Review in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed.
- Endothelial mitochondrial homeostasis in the development and progression of atherosclerosis.Frontiers in cardiovascular medicine · 2026Review
- Two Sides of Triglycerides in Atherogenesis: An Essential Contributor.Clinical Medicine Insights. Cardiology · 2025Review
- Variability of Mitochondrial DNA Heteroplasmy: Association with Asymptomatic Carotid Atherosclerosis.Biomedicines · 2024Article
- Novel economical, accurate, sensitive, single-cell analytical method for mitochondrial DNA quantification in mtDNA mutation carriers.Journal of assisted reproduction and genetics · 2023Article
- Diagnostics of atherosclerosis: Overview of the existing methods.Frontiers in cardiovascular medicine · 2023Review
- Environmental Chemical Exposures and Mitochondrial Dysfunction: a Review of Recent Literature.Current environmental health reports · 2022Review
- From Diabetes to Atherosclerosis: Potential of Metformin for Management of Cardiovascular Disease.International journal of molecular sciences · 2022Review
- The Role of Mitochondrial Abnormalities in Diabetic Cardiomyopathy.International journal of molecular sciences · 2022Review
- Effects of Metabolic Disorders in Immune Cells and Synoviocytes on the Development of Rheumatoid Arthritis.Metabolites · 2022Review
- Role of Impaired Mitochondrial Dynamics Processes in the Pathogenesis of Alzheimer's Disease.International journal of molecular sciences · 2022Review
- Aging of Vascular System Is a Complex Process: The Cornerstone Mechanisms.International journal of molecular sciences · 2022Review
- Interplay between ZnInternational journal of molecular sciences · 2022Review
- Life barcoded by DNA barcodes.Conservation genetics resources · 2022Review
- In-depth understanding of Pearson syndrome arising from a novel large mitochondrial DNA deletion in an infant case.Translational pediatrics · 2021Article
- Disturbance of Mitochondrial Dynamics and Mitochondrial Therapies in Atherosclerosis.Life (Basel, Switzerland) · 2021Review
- Article
- Some Molecular and Cellular Stress Mechanisms Associated with Neurodegenerative Diseases and Atherosclerosis.International journal of molecular sciences · 2021Review
- Pathophysiology of Conversion to Symptomatic Leber Hereditary Optic Neuropathy and Therapeutic Implications: a Review.Current neurology and neuroscience reports · 2020Review
- Somatic mitochondrial mutation discovery using ultra-deep sequencing of the mitochondrial genome reveals spatial tumor heterogeneity in head and neck squamous cell carcinoma.Cancer letters · 2020Article
- Heteroplasmic Variants of Mitochondrial DNA in Atherosclerotic Lesions of Human Aortic Intima.Biomolecules · 2019Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The role of alterations of mitochondrial DNA (mtDNA) in the development of human pathologies is not understood well. Most of mitochondrial mutations are characterized by the phenomenon of heteroplasmy which is defined as the presence of a mixture of more than one type of an organellar genome within a cell or tissue. The level of heteroplasmy varies in wide range, and the expression of disease is dependent on the percent of alleles bearing mutations, thus allowing consumption that an upper threshold level may exist beyond which the mitochondrial function collapses. Recent findings have demonstrated that some mtDNA heteroplasmic mutations are associated with widely spread chronic diseases, including atherosclerosis and cancer. Actually, each etiological mtDNA mutation has its own heteroplasmy threshold that needs to be measured. Therefore, quantitative evaluation of a mutant allele of mitochondrial genome is an obvious methodological challenge, since it may be a keystone for diagnostics of individual genetic predisposition to the disease. This review provides a comprehensive comparison of methods applicable to the measurement of heteroplasmy level of mitochondrial mutations associated with the development of pathology, in particular, in atherosclerosis and its clinical manifestations.
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