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Mutations of mitochondrial DNA in atherosclerosis and atherosclerosis-related diseases
Igor A Sobenin, Andrey V Zhelankin, Konstantin Y Mitrofanov
1Laboratory of Medical Genetics, Russian Cardiology Research and Production Complex, 15-a 3rd Cherepkovskaya Str., 121552 Moscow, Russia. sobenin@cardio.ru.
Abstract:
Atherosclerosis, the primary cause of cardiovascular disease, is a complex and multifactorial pathology resulted from the harmful interactions between genetic and environmental factors. There is a growing body of evidence in support of the role of mitochondrial factors in the pathogenesis of atherosclerosis. Impaired mitochondrial function and structural and qualitative changes in mitochondrial components such as mitochondrial DNA (mtDNA) damage may be directly involved in the development of multiple mechanisms of atherogenesis. Recent findings show that several heteroplasmic mutations of mtDNA are related to atherosclerosis, coronary heart disease and several atherosclerosis-related diseases such as arterial hypertension and diabetes mellitus. Therefore, heteroplasmic mtDNA mutations could represent a promising molecular biomarker of genetic susceptibility to atherosclerosis and related pathologies. This review is focused on the latest findings in the studies of mutations of mitochondrial genome, which are associated with atherosclerosis and atherosclerosis- related diseases.
Insights
Mitochondrial DNA (mtDNA) mutations are linked to atherosclerosis and related diseases. These mutations may serve as biomarkers for genetic susceptibility to cardiovascular conditions.
Area of Science:
- Cardiovascular Science
- Mitochondrial Biology
- Genetics
Background:
- Atherosclerosis is a major cause of cardiovascular disease, influenced by genetic and environmental factors.
- Mitochondrial dysfunction and damage, including mitochondrial DNA (mtDNA) alterations, are increasingly implicated in atherogenesis.
- Heteroplasmic mtDNA mutations are associated with atherosclerosis and related conditions like hypertension and diabetes.
Purpose of the Study:
- To review the latest findings on mitochondrial genome mutations in relation to atherosclerosis.
- To highlight the role of mtDNA mutations as potential biomarkers for atherosclerosis susceptibility.
Main Methods:
- Literature review of recent studies on mitochondrial genome mutations.
- Analysis of the association between heteroplasmic mtDNA mutations and atherosclerosis-related diseases.
Main Results:
- Evidence supports the role of impaired mitochondrial function in atherosclerosis development.
- Several heteroplasmic mtDNA mutations are found to be related to atherosclerosis, coronary heart disease, arterial hypertension, and diabetes mellitus.
- Heteroplasmic mtDNA mutations show promise as molecular biomarkers for genetic susceptibility.
Conclusions:
- Mitochondrial DNA mutations are significantly associated with atherosclerosis and related pathologies.
- These mutations represent a potential avenue for understanding genetic predisposition and developing biomarkers for cardiovascular diseases.
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