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Cardiovascular genetics

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https://www.readbyqxmd.com/read/28747985/comparative-study-of-fertilization-rates-of-c57bl-6nkorl-and-c57bl-6n-mice-obtained-from-two-other-sources
#1
Woo Bin Yun, Hye Ryeong Kim, Ji Eun Kim, Jun Young Choi, Mi Rim Lee, Jin Ju Park, Bo Ram Song, Young Suk Jung, Hyun Keun Song, Joon Young Cho, Kil Soo Kim, Dae Youn Hwang
C57BL/6N is the most widely used inbred mouse strain applied in a wide variety of research areas including cancer, cardiovascular biology, developmental biology, diabetes and obesity, genetics, immunology, neurobiology, and sensorineural research. To compare the fertilization rates of C57BL/6NKorl mice with two commercial C57BL/6N stocks, differences in reproductive organ structures, sperm and egg numbers, fertilization rates, and embryo development rates among C57BL/6NKorl (Korea FDA source), C57BL/6NA (USA source), and C57BL/6NB (Japan source) mice were determined...
June 2017: Laboratory Animal Research
https://www.readbyqxmd.com/read/28747251/serca-control-of-cell-death-and-survival
#2
REVIEW
Elie R Chemaly, Luca Troncone, Djamel Lebeche
Intracellular calcium (Ca(2+)) is a critical coordinator of various aspects of cellular physiology. It is increasingly apparent that changes in cellular Ca(2+) dynamics contribute to the regulation of normal and pathological signal transduction that controls cell growth and survival. Aberrant perturbations in Ca(2+) homeostasis have been implicated in a range of pathological conditions, such as cardiovascular diseases, diabetes, tumorigenesis and steatosis hepatitis. Intracellular Ca(2+) concentrations are therefore tightly regulated by a number of Ca(2+) handling enzymes, proteins, channels and transporters located in the plasma membrane and in Ca(2+) storage organelles, which work in concert to fine tune a temporally and spatially precise Ca(2+) signal...
July 12, 2017: Cell Calcium
https://www.readbyqxmd.com/read/28746172/a-genetic-variant-in-the-catechol-o-methyl-transferase-comt-gene-is-related-to-age-dependent-differences-in-the-therapeutic-effect-of-calcium-channel-blockers
#3
Jiayue Xu, Adrian E Boström, Mohamed Saeed, Raghvendra K Dubey, Gérard Waeber, Peter Vollenweider, Pedro Marques-Vidal, Jessica Mwinyi, Helgi B Schiöth
Hypertension is the leading risk factor for cardiovascular disease and one of the major health concerns worldwide. Genetic factors impact both the risk for hypertension and the therapeutic effect of antihypertensive drugs. Sex- and age-specific variances in the prevalence of hypertension are partly induced by estrogen. We investigated 6 single nucleotide polymorphisms in genes encoding enzymes involved in estrogen metabolism in relation to sex- and age-specific differences in the systolic and diastolic blood pressure (SBP and DBP) outcome under the treatment of diuretics, calcium-channel blockers (CCBs), angiotensin-converting-enzyme inhibitors, and angiotensin-receptor blockers (ARBs)...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28745810/flow-cytometry-vs-optical-microscopy-in-the-evaluation-of-the-genotoxic-potential-of-xenobiotic-compounds
#4
Monia Lenzi, Veronica Cocchi, Patrizia Hrelia
BACKGROUND: It is now recognized that mutational events play a key role in the development of pathological processes like cancer, cardiovascular and neurodegenerative disease. Therefore, it is crucial to have Genetics Toxicology tests that allow rapid and accurate identification of the mutagenic potential of a xenobiotic. Currently the most widely used technique is the "In vitro mammalian cell micronucleus test" performed by optical microscopy, but some problems have been highlighted, including the number of cells analyzed, the high subjectivity of the reading at the microscope and the long analysis times...
July 26, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28745551/institutional-profile-of-pharmacogenetics-within-university-of-michigan-college-of-pharmacy
#5
Daniel L Hertz, Jasmine A Luzum, Amy L Pasternak, Kristen M Ward, Hao-Jie Zhu, James M Rae, Vicki L Ellingrod
The University of Michigan College of Pharmacy has made substantial investment in the area of pharmacogenomics to further bolster its activity in pharmacogenomics research, implementation and education. Four tenure-track faculty members have active research programs that focus primarily on the discovery of functional polymorphisms (HJ Zhu), and genetic associations with treatment outcomes in patients with cancer (DL Hertz), cardiovascular disease (JA Luzum) and psychiatric conditions (VL Ellingrod). Recent investments from the University and the College have accelerated the implementation of pharmacogenetics broadly across the institution and in targeted therapeutic areas...
July 26, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28745211/the-lipid-lowering-effects-and-associated-mechanisms-of-dietary-phytosterol-supplementation
#6
Jerad H Dumolt, Todd C Rideout
Phytosterols (PS) are plant-based structural analogous of mammalian cholesterol that have been shown to lower blood cholesterol concentrations by ~10%, although inter-individual response to PS supplementation due to subject-specific metabolic and genetic factors is evident. Recent work further suggests that PS may act as effective triglyceride (TG)-lowering agents with maximal TG reductions observed in hypertriglyceridemic subjects. Although PS have been demonstrated to interfere with cholesterol and perhaps TG absorption within the intestine, they also have the capacity to modulate the expression of lipid regulatory genes through liver X receptor (LXR) activation...
July 25, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28742912/association-of-genetic-variants-related-to-serum-calcium-levels-with-coronary-artery-disease-and-myocardial-infarction
#7
Susanna C Larsson, Stephen Burgess, Karl Michaëlsson
Importance: Serum calcium has been associated with cardiovascular disease in observational studies and evidence from randomized clinical trials indicates that calcium supplementation, which raises serum calcium levels, may increase the risk of cardiovascular events, particularly myocardial infarction. Objective: To evaluate the potential causal association between genetic variants related to elevated serum calcium levels and risk of coronary artery disease (CAD) and myocardial infarction using mendelian randomization...
July 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28738778/cardiac-profile-of-asymptomatic-children-with-becker-and-duchenne-muscular-dystrophy-under-treatment-with-steroids-and-with-without-perindopril
#8
Sophie Mavrogeni, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Markousis-Mavrogenis, Roser Pons, Evangelos Karanasios, Michel Noutsias, Genovefa Kolovou, George Papadopoulos
BACKGROUND: To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). METHODS: This is a single point cross sectional study of twenty-four boys with genetically ascertained DMD, and 10 with BMD, aged 10.5 ± 1.5 years (range 9-13), were prospectively evaluated by a 1.5 T system and compared with those of age-sex matched controls. The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment with deflazacort, only...
July 24, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28736931/genetic-variants-in-hsd17b3-smad3-and-ipo11-impact-circulating-lipids-in-response-to-fenofibrate-in-individuals-with-type-2-diabetes
#9
Daniel M Rotroff, Sonja S Pijut, Skylar W Marvel, John R Jack, Tammy M Havener, Aurora Pujol, Agatha Schluter, Greg A Graf, Henry N Ginsberg, Hetal S Shah, He Gao, Mario-Luca Morieri, Alessandro Doria, Josyf C Mychaleckyi, Howard L McLeod, John B Buse, Michael J Wagner, Alison A Motsinger-Reif
Individuals with type 2 diabetes (T2D) and dyslipidemia are at an increased risk of cardiovascular disease. Fibrates are a class of drugs prescribed to treat dyslipidemia, but variation in response has been observed. To evaluate common and rare genetic variants that impact lipid responses to fenofibrate in statin-treated T2D patients, we examined lipid changes in response to fenofibrate therapy using genome-wide association(GWA). Associations were followed-up using gene expression studies in mice. Common variants in SMAD3 and IPO11 were marginally associated with lipid changes in black subjects(p<5x10(-6) )...
July 24, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28736756/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#10
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
June 2017: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28736719/lipid-profile-in-adult-patients-with-fabry-disease-ten-year-follow-up
#11
Karolina M Stepien, Chris J Hendriksz
BACKGROUND: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is available but its effect on serum cholesterol is unknown. The aim of this project was to assess the influence of long-term ERT on lipid profile in a large cohort of adult patients with Fabry disease...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28736261/genetic-disruption-of-the-cardiomyocyte-circadian-clock-differentially-influences-insulin-mediated-processes-in-the-heart
#12
Graham R McGinnis, Yawen Tang, Rachel A Brewer, Manoja K Brahma, Haley L Stanley, Gobinath Shanmugam, Namakkal Soorappan Rajasekaran, Glenn C Rowe, Stuart J Frank, Adam R Wende, E Dale Abel, Heinrich Taegtmeyer, Silvio Litovsky, Victor Darley-Usmar, Jianhua Zhang, John C Chatham, Martin E Young
Cardiovascular physiology exhibits time-of-day-dependent oscillations, which are mediated by both extrinsic (e.g., environment/behavior) and intrinsic (e.g., circadian clock) factors. Disruption of circadian rhythms negatively affects multiple cardiometabolic parameters. Recent studies suggest that the cardiomyocyte circadian clock directly modulates responsiveness of the heart to metabolic stimuli (e.g., fatty acids) and stresses (e.g., ischemia/reperfusion). The aim of this study was to determine whether genetic disruption of the cardiomyocyte circadian clock impacts insulin-regulated pathways in the heart...
July 20, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28735360/navigating-the-future-of-cardiovascular-drug-development-leveraging-novel-approaches-to-drive-innovation-and-drug-discovery-summary-of-findings-from-the-novel-cardiovascular-therapeutics-conference
#13
REVIEW
Thomas J Povsic, Rob Scott, Kenneth W Mahaffey, Robert Blaustein, Jay M Edelberg, Martin P Lefkowitz, Scott D Solomon, Jonathan C Fox, Kevin E Healy, Aarif Y Khakoo, Douglas W Losordo, Fady I Malik, Brett P Monia, Rusty L Montgomery, Jeffrey Riesmeyer, Gregory G Schwartz, Steven L Zelenkofske, Joseph C Wu, Scott M Wasserman, Matthew T Roe
PURPOSE: The need for novel approaches to cardiovascular drug development served as the impetus to convene an open meeting of experts from the pharmaceutical industry and academia to assess the challenges and develop solutions for drug discovery in cardiovascular disease. METHODS: The Novel Cardiovascular Therapeutics Summit first reviewed recent examples of ongoing or recently completed programs translating basic science observations to targeted drug development, highlighting successes (protein convertase sutilisin/kexin type 9 [PCSK9] and neprilysin inhibition) and targets still under evaluation (cholesteryl ester transfer protein [CETP] inhibition), with the hope of gleaning key lessons to successful drug development in the current era...
July 22, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28733446/how-does-pressure-overload-cause-cardiac-hypertrophy-and-dysfunction-high-ouabain-affinity-cardiac-na-pumps-are-crucial
#14
Mordecai P Blaustein
Left ventricular hypertrophy is frequently observed in hypertensive patients, and is believed to be due to the pressure overload and cardiomyocyte stretch. Three recent reports on mice with genetically-engineered Na(+) pumps, however, demonstrate that cardiac ouabain-sensitive α2 Na(+) pumps play a key role in the pathogenesis of trans-aortic constriction (TAC)-induced hypertrophy. Hypertrophy was delayed/attenuated in mice with mutant, ouabain-resistant α2 Na(+) pumps and in mice with cardiac-selective knockout (KO) or transgenic overexpression (TG) of α2 Na(+) pumps...
July 21, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28732012/multi-approach-metabolomics-analysis-and-artificial-simplified-phytocomplexes-reveal-cultivar-dependent-synergy-between-polyphenols-and-ascorbic-acid-in-fruits-of-the-sweet-cherry-prunus-avium-l
#15
Mauro Commisso, Martino Bianconi, Flavia Di Carlo, Stefania Poletti, Alessandra Bulgarini, Francesca Munari, Stefano Negri, Matteo Stocchero, Stefania Ceoldo, Linda Avesani, Michael Assfalg, Gianni Zoccatelli, Flavia Guzzo
Fruits of the sweet cherry (Prunus avium L.) accumulate a range of antioxidants that can help to prevent cardiovascular disease, inflammation and cancer. We tested the in vitro antioxidant activity of 18 sweet cherry cultivars collected from 12 farms in the protected geographical indication region of Marostica (Vicenza, Italy) during two growing seasons. Multiple targeted and untargeted metabolomics approaches (NMR, LC-MS, HPLC-DAD, HPLC-UV) as well as artificial simplified phytocomplexes representing the cultivars Sandra Tardiva, Sandra and Grace Star were then used to determine whether the total antioxidant activity reflected the additive effects of each compound or resulted from synergistic interactions...
2017: PloS One
https://www.readbyqxmd.com/read/28731861/genetic-control-of-apoprotein-a-i-and-atheroprotection-some-insights-from-inbred-strains-of-mice
#16
Godfrey S Getz, Catherine A Reardon
PURPOSE OF REVIEW: Previous epidemiological studies and studies in experimental animals have provided strong evidence for the atheroprotective effect of HDL and its major apoprotein, apolipoprotein A-I (apoA-I). Identification of genetic loci associating apoA-I/HDL with cardiovascular disease is needed to establish a causal relationship. RECENT FINDINGS: Pharmacological interventions to increase apoA-I or HDL cholesterol levels in humans are not associated with reduction in atherosclerosis...
July 20, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28730407/venous-thromboembolism-thrombosis-inflammation-and-immunothrombosis-for-clinicians
#17
REVIEW
Eduardo Vazquez-Garza, Carlos Jerjes-Sanchez, Aline Navarrete, Jorge Joya-Harrison, David Rodriguez
Venous thromboembolism (VTE) is a worldwide disease related with mortality, cardiovascular disability, impaired quality of life and, cause major long-term complications. Clinicians related to the acute and long-term patients care must be involved in the molecular mechanisms of thrombosis. The vessel wall and its inner lining of the endothelium are critical to the maintenance of a patent vasculature. After endothelial disruption, collagen (first line of endothelial defense) and intravascular tissue factor (second line of endothelial defense) are exposed to blood flow, starting the formation of a thrombus...
July 20, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28727943/the-genetic-background-of-metabolic-trait-clusters-in-children-and-adolescents
#18
Karri Silventoinen, Élvio Gouveia, Aline Jelenkovic, José Maia, António M Antunes, Miguel A A Pinheiro de Carvalho, António M Brehm, Martine Thomis, Johan Lefevre, Jaakko Kaprio, Duarte Freitas
BACKGROUND: It is well known that metabolic risk factors of cardiovascular diseases are correlated, but the background of this clustering in children is more poorly known than in adults. Thus, we studied the contribution of genetic and environmental factors to the clustering of metabolic traits in childhood and adolescence. DATA AND METHODS: Nine metabolic traits were measured in 214 complete twin pairs aged 3-18 years in the Autonomous Region of Madeira, Portugal, in 2007 and 2008...
July 20, 2017: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/28726432/-news-in-the-treatment-of-hypertension-and-dyslipidemia
#19
Jan Václavík
These review article presents the results of major recent studies in cardiovascular prevention. HOPE-3 study showed that people with medium cardiovascular risk who have not experienced a cardiovascular event, and have normal blood pressure, benefit from deploying a statin, and in the presence of hypertension benefit from deploying a combination of a statin and antihypertensive drugs. Studies evaluating genetic predisposition brought new evidence that both LDL cholesterol and systolic blood pressure are independent and multiplicative causal risk factors for cardiovascular events...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#20
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
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