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Understanding the impact of mitochondrial defects in cardiovascular disease: a review
José Marín-García1, Michael J Goldenthal
1Molecular Cardiology and Neuromuscular Institute, Highland Park, New Jersey 08904, USA.
Insights
Mitochondrial defects are linked to various heart diseases, with causes ranging from genetic mutations to environmental factors. Understanding these mitochondrial issues is key for diagnosing and treating cardiac dysfunction.
Area of Science:
- Cardiology
- Mitochondrial Biology
- Molecular Medicine
Background:
- Mitochondrial structure and function defects are associated with cardiovascular diseases including cardiomyopathies and myocarditis.
- Genetic factors (e.g., mitochondrial DNA mutations, nuclear gene mutations affecting fatty acid beta-oxidation) and environmental insults contribute to mitochondrial abnormalities.
Purpose of the Study:
- To review mitochondrial abnormalities in cardiac diseases.
- To highlight their etiology, role in pathogenesis, and clinical management options.
- To provide background on mitochondrial biogenesis and bioenergetics in cardiac health and aging.
Main Methods:
- Literature review of studies on mitochondrial structure/function in cardiac diseases.
- Analysis of potential causes, pathogenetic significance, and therapeutic strategies.
- Inclusion of background on mitochondrial biogenesis and bioenergetic pathways.
Main Results:
- Mitochondrial abnormalities are implicated in diverse cardiac conditions.
- Both genetic and environmental factors contribute to these defects.
- The primary cause of bioenergetic dysfunction may involve non-bioenergetic pathways or issues with mitochondrial biogenesis/degradation.
Conclusions:
- Aberrations in mitochondrial bioenergetics are frequently linked to cardiac dysfunction.
- The root cause of bioenergetic dysfunction may lie outside direct bioenergetic pathways, such as in mitochondrial-nuclear signaling or biogenesis/degradation processes.
Objective:
Defects in mitochondrial structure and function have been found in association with cardiovascular diseases such as dilated and hypertrophic cardiomyopathy, cardiac conduction defects and sudden death, ischemic and alcoholic cardiomyopathy, and myocarditis. A genetic basis has been established for some mitochondrial abnormalities (eg, mitochondrial DNA changes leading to oxidative phosphorylation dysfunction, fatty acid beta-oxidation (FAO) defects resulting from specific nuclear mutations) whereas other abnormalities appear to be due to a more sporadic or environmental cardiotoxic insult or have not yet been characterized.
Methods:
This article reviews mitochondrial abnormalities in structure or function reported in cardiac diseases highlighting information about their potential etiology, significance in cardiac pathogenesis, and diagnostic and therapeutic options available to the clinician. We also provide a brief background concerning mitochondrial biogenesis and bioenergetic pathways in cardiac growth, development, and aging.
Conclusions:
Although aberrations in bioenergetic functioning of mitochondria appear to be most often related to cardiac dysfunction, the primary defect(s) causing bioenergetic dysfunction may reside in a nonbioenergetic pathway (eg, signaling between mitochondria and nucleus) or in overall mitochondrial biogenesis or degradation pathways.