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

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

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

<p>Abstract</p> <p>Background</p> <p>There is strong and consistent evidence that oxidative stress is crucially involved in the development of atherosclerotic vascular disease. Overproduction of reactive oxygen species (ROS) in mitochondria is an unifying mechanism that underlies micro- and macrovascular atherosclerotic disease. Given the central role of mitochondria in energy and ROS production, mitochondrial DNA (mtDNA) is an obvious candidate for genetic susceptibility studies on atherosclerotic processes. We therefore examined the association between mtDNA haplogroups and coronary artery disease (CAD) as well as diabetic retinopathy.</p> <p>Methods</p> <p>This study of Middle European Caucasians included patients with angiographically documented CAD (n = 487), subjects with type 2 diabetes mellitus with (n = 149) or without (n = 78) diabetic retinopathy and control subjects without clinical manifestations of atherosclerotic disease (n = 1527). MtDNA haplotyping was performed using multiplex PCR and subsequent multiplex primer extension analysis for determination of the major European haplogroups. Haplogroup frequencies of patients were compared to those of control subjects without clinical manifestations of atherosclerotic disease.</p> <p>Results</p> <p>Haplogroup T was significantly more prevalent among patients with CAD than among control subjects (14.8% vs 8.3%; p = 0.002). In patients with type 2 diabetes, the presence of diabetic retinopathy was also significantly associated with a higher prevalence of haplogroup T (12.1% vs 5.1%; p = 0.046).</p> <p>Conclusion</p> <p>Our data indicate that the mtDNA haplogroup T is associated with CAD and diabetic retinopathy in Middle European Caucasian populations.</p

Variabilities of biochemical properties of the sea surface microlayer: Insights to the atmospheric deposition impacts

Highlights: • Adriatic coastal area: simultaneous atmospheric and seawater field measurements • Nutrient variability in aerosols, rainwater and atmospheric deposition (AD) fluxes • Local open-fire biomass burning (BB) affected chemistry of atmospheric samples. • AD impacted nutrient levels and N:P ratios in the sea surface microlayer (SML). • The SML plankton development and organic matter enrichments followed BB episodes. Abstract: Atmospheric deposition (AD) of nutrients and its impact on the sea surface requires consideration of interfacial processes within the sea surface microlayer (SML), the ocean-atmosphere boundary layer of major importance for many global biogeochemical and climate-related processes. This study comprised a comprehensive dataset, including dissolved NO3−, NH4+ and PO43− in ambient aerosol particles, wet deposition and sea surface samples collected from February to July 2019 at a central Adriatic coastal site. The aerosol mean concentration of dissolved nitrogen (DIN = NO3− + NH4+) and PO43− were 48.8 ± 82.8 μmol m−3 and 0.8 ± 0.6 μmol m−3, respectively, while their total fluxes (dry + wet) ranged from 24.2 to 212.3 μmol m−2 d−1 (mean 123.2 ± 53.2 μmol m−2 d−1) and from 1.2 to 2.1 μmol m−2 d−1 (mean 1.5 ± 0.3 μmol m−2 d−1), respectively. Intensive local episodes of open biomass burning (BB) significantly increased aerosol DIN concentrations as well as DIN deposition fluxes, particularly altering the molar DIN/PO43− ratio of atmospheric samples. The DIN temporal patterns showed high variability in the SML (range 0.2–24.6 μmol L−1, mean 5.0 ± 7.1 μmol L−1) in contrast to the underlying water samples (range 0.5–4.2 μmol L−1, mean 1.9 ± 1.2 μmol L−1), with significant increases during BB periods. Variability in abundance of heterotrophic bacteria and autotrophs in the SML along with concentrations of bulk dissolved and particulate organic carbon as well as dissolved and particulate lipids and carbohydrates, gel particles and surfactants followed DIN enhancements with a two-week delay. This study showed that AD can affect the short-term scale enrichments of organic matter in the SML, especially when accompanied by BB emissions typical of the overall Mediterranean coastal environment. This could have strong implications for global air-sea exchange processes, including those of climate relevant gases, mediated by the SML