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Updated: Mar 30, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Mitochondrial genome sequencing in atherosclerosis: what's next?
Margarita A Sazonova1, Tatiana P Shkurat, Natalya A Demakova
1Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, Moscow, Russian Federation; Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow, Russian Federation; 15a, 3rd Cherepkovskaya street, Moscow, 121552, The Russian Federation. margaritaasazonova@gmail.com.
Insights
Next-Generation Sequencing (NGS) identifies mitochondrial DNA mutations linked to atherosclerosis and its risk factors. This technology aids in early detection and understanding common pathways for personalized medicine approaches.
Area of Science:
- Genetics
- Cardiology
- Mitochondrial Biology
Background:
- Cardiovascular diseases, particularly atherosclerosis, are leading causes of mortality globally.
- Early detection and understanding of atherosclerosis pathogenesis are crucial for effective intervention.
- Mitochondrial dysfunction is increasingly implicated in cardiovascular pathologies.
Purpose of the Study:
- To review the application of Next-Generation Sequencing (NGS) in studying mitochondrial genome mutations associated with atherosclerosis.
- To explore the role of NGS in identifying risk factors and common pathogenetic mechanisms.
- To highlight the potential of NGS in personalized medicine for cardiovascular diseases.
Main Methods:
- Literature review of studies utilizing Next-Generation Sequencing (NGS) technology.
- Analysis of data on mitochondrial genome mutations and haplogroups related to atherosclerosis and its risk factors.
- Identification of common genetic markers across different pathologies.
Main Results:
- NGS enables high-throughput, cost-effective analysis of mitochondrial genomes.
- Specific homoplasmic and heteroplasmic mutations and mitochondrial haplogroups associated with atherosclerosis and risk factors (e.g., mitochondrial diabetes, cardiomyopathy) were identified.
- Overlap in mutations and haplogroups suggests shared pathogenetic mechanisms.
Conclusions:
- NGS is a powerful tool for investigating mitochondrial DNA in cardiovascular diseases.
- Identifying common genetic links can inform targeted therapeutic strategies.
- A combined approach of molecular genetic and pharmaceutical interventions may revolutionize atherosclerosis treatment.
Abstract:
Cardiovascular diseases are currently a basic cause of mortality in highly developed countries. The major reason for genesis and development of cardiovascular diseases is atherosclerosis. At the present time high technology methods of molecular genetic diagnostics can significantly simplify early presymptomatic recognition of patients with atherosclerosis, to detect risk groups and to perform a family analysis of this pathology. A Next-Generation Sequencing (NGS) technology can be characterized by high productivity and cheapness of full genome analysis of each DNA sample. We suppose that in the nearest future NGS methods will be widely used for scientific and diagnostic purposes, including personalized medicine. In the present review article literature data on using NGS technology were described in studying mitochondrial genome mutations associated with atherosclerosis and its risk factors, such as mitochondrial diabetes, mitochondrial cardiomyopathy, diabetic nephropathy and left ventricular hypertrophy. With the use of the NGS technology it proved to be possible to detect a range of homoplasmic and heteroplasmic mutations and mitochondrial genome haplogroups which are associated with these pathologies. Meanwhile some mutations and haplogroups were detected both in atherosclerosis and in its risk factors. It conveys the suggestion that there are common pathogenetic mechanisms causing these pathologies. What comes next? New paradigm of crosstalk between non-pharmaceutical (including molecular genetic) and true pharmaceutical approaches may be developed to fill the niche of effective and pathogenically targeted pretreatment and treatment of preclinical and subclinical atherosclerosis to avoid the development of chronic life-threatening disease.
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