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      The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations

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          Abstract

          Background

          The pivotal role of mitochondria in energy production and free radical generation suggests that the mitochondrial genome could have an important influence on the expression of multifactorial age related diseases. Substitution of T to C at nucleotide position 16189 in the hypervariable D-loop of the control region (CR) of mitochondrial DNA (mtDNA) has attracted research interest because of its suspected association with various multifactorial diseases. The aim of the present study was to compare the frequency of this polymorphism in the CR of mtDNA in patients with coronary artery disease (CAD, n = 482) and type 2 diabetes mellitus (T2DM, n = 505) from two study centers, with healthy individuals (n = 1481) of Middle European descent in Austria.

          Methodology and Principal Findings

          CR polymorphisms and the nine major European haplogroups were identified by DNA sequencing and primer extension analysis, respectively. Frequencies and Odds Ratios for the association between cases and controls were calculated. Compared to healthy controls, the prevalence of T16189C was significantly higher in patients with CAD (11.8% vs 21.6%), as well as in patients with T2DM (11.8% vs 19.4%). The association of CAD, but not the one of T2DM, with T16189C remained highly significant after correction for age, sex and body mass index (BMI) and was independent of the two study centers.

          Conclusions and Significance

          Our results show for the first time a significant association of T16189C with CAD in a Middle European population. As reported in other studies, in patients with T2DM an association with T16189C in individuals of European decent remains questionable.

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          Mitochondrial diseases in man and mouse.

          D C Wallace (1999)
          Over the past 10 years, mitochondrial defects have been implicated in a wide variety of degenerative diseases, aging, and cancer. Studies on patients with these diseases have revealed much about the complexities of mitochondrial genetics, which involves an interplay between mutations in the mitochondrial and nuclear genomes. However, the pathophysiology of mitochondrial diseases has remained perplexing. The essential role of mitochondrial oxidative phosphorylation in cellular energy production, the generation of reactive oxygen species, and the initiation of apoptosis has suggested a number of novel mechanisms for mitochondrial pathology. The importance and interrelationship of these functions are now being studied in mouse models of mitochondrial disease.
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            Oxidative stress and cardiovascular disease: novel tools give (free) radical insight.

            Ian M Fearon, Stephen P. Faux (2009)
            Cardiovascular disease is the most common cause of mortality in the Western world and accounts for up to a third of all deaths worldwide. Cardiovascular disease is multifactorial and involves complex interplay between lifestyle (diet, smoking, exercise, ethanol consumption) and fixed (genotype, age, menopausal status, gender) causative factors. The initiating step in cardiovascular disease is endothelial damage, which exposes these cells and the underlying cell layers to a deleterious inflammatory process which ultimately leads to the formation of atherosclerotic lesions. Intrinsic to lesion formation is cellular oxidative stress, due to the production of damaging free radicals (reactive oxygen and nitrogen species) by many cell types including endothelial cells, vascular smooth muscle cells and monocytes/macrophages. Exogenous factors such as smoking and the existence of other disease states such as diabetes also contribute to oxidative stress and are strong risk factors for cardiovascular disease. In this review we describe this role of free radicals in atherosclerosis and discuss the mechanisms and cellular systems by which these radicals are produced. We also highlight recent technological advances which have added to the vascular biologist's armoury and which promise to provide new insight into the role of reactive oxygen species in cardiovascular disease.
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              Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.

              Kristin Ardlie, Roger Daly, Daniel Gaudet … (2006)
              Many lines of evidence implicate mitochondria in phenotypic variation: (a) rare mutations in mitochondrial proteins cause metabolic, neurological, and muscular disorders; (b) alterations in oxidative phosphorylation are characteristic of type 2 diabetes, Parkinson disease, Huntington disease, and other diseases; and (c) common missense variants in the mitochondrial genome (mtDNA) have been implicated as having been subject to natural selection for adaptation to cold climates and contributing to "energy deficiency" diseases today. To test the hypothesis that common mtDNA variation influences human physiology and disease, we identified all 144 variants with frequency >1% in Europeans from >900 publicly available European mtDNA sequences and selected 64 tagging single-nucleotide polymorphisms that efficiently capture all common variation (except the hypervariable D-loop). Next, we evaluated the complete set of common mtDNA variants for association with type 2 diabetes in a sample of 3,304 diabetics and 3,304 matched nondiabetic individuals. Association of mtDNA variants with other metabolic traits (body mass index, measures of insulin secretion and action, blood pressure, and cholesterol) was also tested in subsets of this sample. We did not find a significant association of common mtDNA variants with these metabolic phenotypes. Moreover, we failed to identify any physiological effect of alleles that were previously proposed to have been adaptive for energy metabolism in human evolution. More generally, this comprehensive association-testing framework can readily be applied to other diseases for which mitochondrial dysfunction has been implicated.
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                Author and article information

                Contributors
                : Role: Editor
                Journal
                Journal ID (nlm-ta): PLoS One
                Journal ID (publisher-id): plos
                Journal ID (pmc): plosone
                Title: PLoS ONE
                Publisher: Public Library of Science (San Francisco, USA )
                ISSN (Electronic): 1932-6203
                Publication date Collection: 2011
                Publication date (Electronic): 26 January 2011
                Volume: 6
                Issue: 1
                Electronic Location Identifier: e16455
                Affiliations
                [1 ]Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
                [2 ]Department of Cardiac Surgery, Paracelsus Medical University, Salzburg, Austria
                [3 ]Department of Internal Medicine, Paracelsus Medical University, Salzburg, Austria
                [4 ]Department of Geriatrics, Paracelsus Medical University, Salzburg, Austria
                [5 ]Department of Laboratory Medicine, Paracelsus Medical University, Salzburg, Austria
                [6 ]Department of Ophthalmology, Medical University Graz, Graz, Austria
                [7 ]Department of Internal Medicine, Hospital Hallein, Hallein, Austria
                University of Tor Vergata, Italy
                Author notes

                Conceived and designed the experiments: WE OS RM WP WS BK. Performed the experiments: EEM SE ES DS TK. Analyzed the data: EEM WE BK. Contributed reagents/materials/analysis tools: OS BP BI HO RM FK RW WP. Wrote the paper: EEM WE BK. Provided technical support: JAM.

                Article
                Publisher ID: PONE-D-10-03287
                DOI: 10.1371/journal.pone.0016455
                PMC ID: 3027676
                PubMed ID: 21298061
                SO-VID: acd08bb7-a188-42cf-aa69-f0116e173e88
                Copyright © Mueller et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
                History
                Date received : 7 October 2010
                Date accepted : 16 December 2010
                Page count
                Pages: 7
                Categories
                Subject: Research Article
                Subject: Biology
                Subject: Genetics
                Subject: Human Genetics
                Subject: Genetic Association Studies
                Subject: Population Genetics
                Subject: Genetic Polymorphism
                Subject: Genetics of Disease
                Subject: Medicine
                Subject: Cardiovascular
                Subject: Coronary Artery Disease
                Subject: Endocrinology
                Subject: Diabetic Endocrinology
                Subject: Diabetes Mellitus Type 2
                Subject: Epidemiology
                Subject: Cardiovascular Disease Epidemiology
                Subject: Genetic Epidemiology

                ScienceOpen disciplines: Uncategorized
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                ScienceOpen disciplines: Uncategorized

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