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Atrial Fibrillation Genes

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https://www.readbyqxmd.com/read/28642118/current-state-of-the-art-for-cardiac-arrhythmia-gene-therapy
#1
REVIEW
J Kevin Donahue
Cardiac arrhythmias are a leading cause of morbidity and mortality. Currently available therapeutic options lack sufficient efficacy and safety. Gene therapy has been proposed for treatment of cardiac arrhythmias. This review will discuss the current state of development for arrhythmia gene therapy. So far, all published studies are short-term, proof-of-concept animal studies. Potential replacement of cardiac pacemakers has been shown for combination gene therapy using the HCN2 gene and either the gene for adenylate cyclase, the skeletal muscle isoform of the sodium channel, or a dominant negative mutant of the potassium channel responsible for resting membrane potential...
June 19, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28640127/association-between-kcne1-g38s-gene-polymorphism-and-risk-of-atrial-fibrillation-a-prisma-compliant-meta-analysis
#2
Yu-Feng Jiang, Min Chen, Nan-Nan Zhang, Hua-Jia Yang, Lang-Biao Xu, Qing Rui, Si-Jia Sun, Jia-Lu Yao, Ya-Feng Zhou
BACKGROUND: Previous case-control studies on association between KCNE1 G38S polymorphism and risk of atrial fibrillation (AF) have been published but because of the conflicting results and small sample size of individual studies, the consolidated result is still controversial. OBJECTIVES: The aim of this study was to explore the relationship between KCNE1 G38S polymorphism and risk of AF. METHODS: We performed a comprehensive literature search on PubMed, Embase, OVID, Web of Science, Wan Fang, and CNKI databases up to March 10, 2017 in English and Chinese languages...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28638575/danon-disease-for-the-cardiologist-case-report-and-review-of-the-literature
#3
Ryan S D'souza, Luisa Mestroni, Matthew R G Taylor
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disease is the ultimate cause of demise in many patients if left untreated. Given the rarity of the condition, the natural history is poorly understood. Here, we present a case report on a 14-year-old Hispanic boy with Danon disease, highlighting major clinical events and diagnostic study findings over a six-year period from age of symptom onset to age of death...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28630469/c2238-anp-gene-variant-promotes-increased-platelet-aggregation-through-the-activation-of-nox2-and-the-reduction-of-camp
#4
Roberto Carnevale, Pasquale Pignatelli, Giacomo Frati, Cristina Nocella, Rosita Stanzione, Daniele Pastori, Simona Marchitti, Valentina Valenti, Maria Santulli, Emanuele Barbato, Teresa Strisciuglio, Leonardo Schirone, Carmine Vecchione, Francesco Violi, Massimo Volpe, Speranza Rubattu, Sebastiano Sciarretta
Subjects carrying the C2238 variant of the atrial natriuretic peptide (ANP) gene have a higher occurrence of stroke and acute coronary syndrome, suggesting an increased predisposition to acute thrombotic events in these subjects. We evaluated for the first time the direct effects of mutant ANP (C2238/αANP) on platelet activation in vitro and in human subjects. In vitro, platelets were incubated with no peptide, with T2238/αANP (WT) or with C2238/αANP at different concentrations. C2238/αANP (10(-10) M) induced higher collagen-induced platelet aggregation with respect to both control without ANP and T2238/αANP...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28629510/screening-strategies-for-atrial-fibrillation-a-systematic-review-and-cost-effectiveness-analysis
#5
Nicky J Welton, Alexandra McAleenan, Howard Hz Thom, Philippa Davies, Will Hollingworth, Julian Pt Higgins, George Okoli, Jonathan Ac Sterne, Gene Feder, Diane Eaton, Aroon Hingorani, Christopher Fawsitt, Trudie Lobban, Peter Bryden, Alison Richards, Reecha Sofat
BACKGROUND: Atrial fibrillation (AF) is a common cardiac arrhythmia that increases the risk of thromboembolic events. Anticoagulation therapy to prevent AF-related stroke has been shown to be cost-effective. A national screening programme for AF may prevent AF-related events, but would involve a substantial investment of NHS resources. OBJECTIVES: To conduct a systematic review of the diagnostic test accuracy (DTA) of screening tests for AF, update a systematic review of comparative studies evaluating screening strategies for AF, develop an economic model to compare the cost-effectiveness of different screening strategies and review observational studies of AF screening to provide inputs to the model...
May 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28622331/in-silico-assessment-of-genetic-variation-in-kcna5-reveals-multiple-mechanisms-of-human-atrial-arrhythmogenesis
#6
Michael A Colman, Haibo Ni, Bo Liang, Nicole Schmitt, Henggui Zhang
A recent experimental study investigating patients with lone atrial fibrillation identified six novel mutations in the KCNA5 gene. The mutants exhibited both gain- and loss-of-function of the atrial specific ultra-rapid delayed rectifier K+ current, IKur. The aim of this study is to elucidate and quantify the functional impact of these KCNA5 mutations on atrial electrical activity. A multi-scale model of the human atria was updated to incorporate detailed experimental data on IKur from both wild-type and mutants...
June 16, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28601532/genetics-of-atrial-fibrillation-state-of-the-art-in-2017
#7
REVIEW
Diane Fatkin, Celine F Santiago, Inken G Huttner, Steven A Lubitz, Patrick T Ellinor
Genetic variation is an important determinant of atrial fibrillation (AF) susceptibility. Numerous rare variants in protein-coding sequences of genes have been associated with AF in families and in early-onset cases, and chromosomal loci harbouring common risk variants have been mapped in AF cohorts. Many of these loci are in non-coding regions of the human genome and are thought to contain regulatory sequences that modulate gene expression. Disease genes implicated to date have predominantly encoded cardiac ion channels, with predicted mutation effects on the atrial action potential duration...
May 11, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28596592/sequence-variant-at-4q25-near-pitx2-associates-with-appendicitis
#8
Ragnar P Kristjansson, Stefania Benonisdottir, Asmundur Oddsson, Tessel E Galesloot, Gudmar Thorleifsson, Katja K Aben, Olafur B Davidsson, Stefan Jonsson, Gudny A Arnadottir, Brynjar O Jensson, G Bragi Walters, Jon K Sigurdsson, Snaevar Sigurdsson, Hilma Holm, David O Arnar, Gudmundur Thorgeirsson, Kristin Alexiusdottir, Ingileif Jonsdottir, Unnur Thorsteinsdottir, Lambertus A Kiemeney, Thorvaldur Jonsson, Daniel F Gudbjartsson, Thorunn Rafnar, Patrick Sulem, Kari Stefansson
Appendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. We performed a genome-wide association study of appendicitis in 7,276 Icelandic and 1,139 Dutch cases and large groups of controls. In a combined analysis of the Icelandic and Dutch data, we detected a single signal represented by an intergenic variant rs2129979 [G] close to the gene PITX2 associating with increased risk of appendicitis (OR = 1.15, P = 1.8 × 10(-11))...
June 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28584231/identification-of-15-novel-risk-loci-for-coronary-artery-disease-and-genetic-risk-of-recurrent-events-atrial-fibrillation-and-heart-failure
#9
Niek Verweij, Ruben N Eppinga, Yanick Hagemeijer, Pim van der Harst
Coronary artery disease (CAD) is the major cause of morbidity and mortality in the world. Identification of novel genetic determinants may provide new opportunities for developing innovative strategies to predict, prevent and treat CAD. Therefore, we meta-analyzed independent genetic variants passing P <× 10(-5) in CARDIoGRAMplusC4D with novel data made available by UK Biobank. Of the 161 genetic variants studied, 71 reached genome wide significance (p < 5 × 10(-8)) including 15 novel loci. These novel loci include multiple genes that are involved in angiogenesis (TGFB1, ITGB5, CDH13 and RHOA) and 2 independent variants in the TGFB1 locus...
June 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28582578/proteomics-of-the-epicardial-fat-secretome-and-its-role-in-post-operative-atrial-fibrillation
#10
Alessandro Viviano, Xiaoke Yin, Anna Zampetaki, Marika Fava, Mark Gallagher, Manuel Mayr, Marjan Jahangiri
Aims: Post-operative atrial fibrillation (POAF) is a predictor of morbidity and mortality after cardiac surgery. Latent predisposing factors may reside in the epicardial adipose tissue (EAT) due to its anatomical position and high protein production rate. In order to explore a possible mechanistic link, we characterized proteins secreted by the EAT preceding the onset of POAF. Methods and results: Epicardial adipose tissue samples were collected from 76 consecutive patients with no history of AF undergoing coronary artery bypass surgery, 50 samples for proteomic analysis and 26 for gene expression studies, further divided according to development of POAF...
June 5, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28578429/a-potential-role-of-esophageal-cancer-related-gene-4-for-atrial-fibrillation
#11
Li Huang, Hua Yu, Xinrong Fan, Xue Li, Liang Mao, Jun Cheng, Xiaorong Zeng, Xitong Dang
Epidemiological studies have shown a strong correlation between tumor and AF. However, the molecular link between tumor and AF remains unknown. ECRG4, a tumor suppressor gene that is expressed in the A-V node and in sporadic ventricular myocytes, inhibits tumorigenesis and monitors tissue homeostasis by functioning as a 'sentinel' molecule gauging inflammatory and cell proliferative responses. To explore the potential physiological function of Ecrg4 in heart, we evaluated its distribution in heart, analyzed its expression in patients with persistent AF and in a canine AF model, and dissected the molecular events downstream of Ecrg4...
June 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28559982/long-noncoding-rnas-and-novel-inflammatory-genes-determined-by-rna-sequencing-in-human-lymphocytes-are-up-regulated-in-permanent-atrial-fibrillation
#12
Xue-Jing Yu, Li-Hui Zou, Jun-Hua Jin, Fei Xiao, Li Li, Nan Liu, Jie-Fu Yang, Tong Zou
Atrial fibrillation (AF) is a common arrhythmia in clinical practice. Currently, approximately 33.5 million individuals are affected by AF globally. AF involves multiple complicated mechanisms which have not been fully investigated yet. RNA sequencing (RNAseq) is an outstanding method for investigation of diseases due to its high-throughput information. Here, RNAseq was applied to determine mRNA and long noncoding RNA (lncRNA) expression profiles in human lymphocytes from 6 permanent atrial fibrillation (pmAF) patients and 6 healthy controls...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28557294/a-mechanism-for-nav-1-5-downregulation-and-sodium-current-decrease-in-heart-failure
#13
EDITORIAL
Sara Pagans, Marcel Vergés
The pore-forming α-subunit of the cardiac voltage-gated sodium channel, NaV 1.5, is responsible for the initial upstroke of the cardiac action potential. NaV 1.5 cell surface expression and function are modulated by its interaction with regulatory proteins and by posttranslational modifications, such as phosphorylation, arginine methylation or ubiquitination (1) . Genetic mutations in the SCN5A gene, which encodes NaV 1.5, have been associated with a variety of inherited cardiac arrhythmias, including long QT syndrome type 3, Brugada syndrome, atrial fibrillation, and congenital sick sinus syndrome...
May 30, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28549997/deep-sequencing-of-atrial-fibrillation-patients-with-mitral-valve-regurgitation-shows-no-evidence-of-mosaicism-but-reveals-novel-rare-germline-variants
#14
Emilie Gregers, Gustav Ahlberg, Thea Christensen, Javad Jabbari, Kirstine O Larsen, Cecilie B Herfelt, Kristoffer M Henningsen, Laura Andreasen, Jens J Thiis, Jens Lund, Susanne Holme, Stig Haunsø, Bo H Bentzen, Nicole Schmitt, Jesper H Svendsen, Morten S Olesen
BACKGROUND: Atrial fibrillation (AF) is the most common cardiac arrhythmia. Valvular heart disease is a strong predictor, yet the underlying molecular mechanisms are unknown. OBJECTIVE: The purpose of this study was to investigate the prevalence of somatic variants in AF candidate genes in an AF patient population undergoing surgery for mitral valve regurgitation (MVR) to determine whether these patients are genetically predisposed to AF. METHODS: DNA was extracted from blood and left atrial tissue from 44 AF patients with MVR...
May 24, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28548218/gene-therapy-for-atrial-fibrillation-in-heart-failure
#15
R Arora
Atrial fibrillation (AF) is the most common arrhythmia and a major cause of morbidity and mortality in an aging population. Unfortunately, current treatments for AF are suboptimal, in large part because the molecular mechanisms underlying AF are not well understood. Recent advances in our understanding of the AF disease state have led to the preclinical development of gene-based therapies that are targeted to key molecular mechanisms involved in the genesis and maintenance of AF.
May 26, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28546098/altered-long-non-coding-rna-expression-profile-in-rabbit-atria-with-atrial-fibrillation-tcons_00075467-modulates-atrial-electrical-remodeling-by-sponging-mir-328-to-regulate-cacna1c
#16
Zhan Li, Ximin Wang, Weizong Wang, Juanjuan Du, Jinqiu Wei, Yong Zhang, Jiangrong Wang, Yinglong Hou
Electrical remodeling has been reported to play a major role in the initiation and maintenance of atrial fibrillation (AF). Long non-coding RNAs (lncRNAs) have been increasingly recognized as contributors to the pathology of heart diseases. However, the roles and mechanisms of lncRNAs in electrical remodeling during AF remain unknown. In this study, the lncRNA expression profiles of right atria were investigated in AF and non-AF rabbit models by using RNA sequencing technique and validated using quantitative real-time polymerase chain reaction (qRT-PCR)...
May 22, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28536780/-genetic-testing-in-polygenic-diseases-atrial-fibrillation-arterial-hypertension-and-coronary-artery-disease
#17
T Trenkwalder, T Kessler, H Schunkert
Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. In case of rare monogenic diseases, diagnostics, risk stratification, and, in some cases, treatment decisions have become easier. For common, polygenic cardiovascular diseases, the situation is more complex due to interaction of modifiable external risk factors and nonmodifiable factors like genetic predisposition...
May 23, 2017: Herz
https://www.readbyqxmd.com/read/28527921/drug-induced-fatal-arrhythmias-acquired-long-qt-and-brugada-syndromes
#18
REVIEW
Isik Turker, Tomohiko Ai, Hideki Itoh, Minoru Horie
Since the early 1990s, the concept of primary "inherited" arrhythmia syndromes or ion channelopathies has evolved rapidly as a result of revolutionary progresses made in molecular genetics. Alterations in genes coding for membrane proteins such as ion channels or their associated proteins responsible for the generation of cardiac action potentials (AP) have been shown to cause specific malfunctions which eventually lead to cardiac arrhythmias. These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome, progressive cardiac conduction disease, etc...
May 17, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28523323/discovery-of-a-new-mutation-in-the-desmin-gene-in-a-young-patient-with-cardiomyopathy-and-muscular-weakness
#19
Ruxandra Oana JurcuŢ, Alexandra Eugenia Bastian, Sebastian Militaru, Aura Popa, Emilia Manole, Bogdan Alexandru Popescu, Jonna Tallila, Bogdan Ovidiu Popescu, Carmen Doina Ginghină
A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28507570/scai-atrial-natriuretic-peptide-gene-polymorphisms-and-their-possible-association-with-postoperative-atrial-fibrillation-a-preliminary-report
#20
Janusz Siebert, Łukasz Lewicki, Jolanta Myśliwska, Monika Młotkowska, Jan Rogowski
INTRODUCTION: Atrial fibrillation (AF) is a frequently encountered complication after coronary artery bypass grafting (CABG), but its underlying mechanisms are still unclear. The natriuretic peptides have been reported as markers for predicting the occurrence of postoperative AF. This study evaluates whether the ScaI ANP gene polymorphisms predict the occurrence of postoperative AF. MATERIAL AND METHODS: A prospective study of 203 consecutive patients with coronary artery disease undergoing elective CABG was undertaken for atrial natriuretic peptide (ANP) ScaI gene polymorphism...
April 1, 2017: Archives of Medical Science: AMS
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