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https://www.readbyqxmd.com/read/28613240/an-isoform-of-nedd4-2-plays-a-pivotal-role-in-electrophysiological-cardiac-abnormalities
#1
Shintaro Minegishi, Tomoaki Ishigami, Hisho Kawamura, Tabito Kino, Lin Chen, Rie Nakashima-Sasaki, Hiroshi Doi, Kengo Azushima, Hiromichi Wakui, Yumi Chiba, Kouichi Tamura
We have previously shown that neural precursor cell-expressed developmentally downregulated gene 4-2 (Nedd4-2) isoforms with a C2 domain are closely related to ubiquitination of epithelial sodium channel (ENaC), resulting in salt-sensitive hypertension by Nedd4-2 C2 targeting in mice. The sodium voltage-gated channel alpha subunit 5 (SCN5A) gene encodes the α subunit of the human cardiac voltage-gated sodium channel (I Na), and the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene encodes rapidly activating delayed rectifier K channels (I Kr)...
June 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28597987/trafficking-and-localization-to-the-plasma-membrane-of-nav-1-5-promoted-by-the-%C3%AE-2-subunit-is-defective-due-to-a-%C3%AE-2-mutation-associated-with-brugada-syndrome
#2
Gemma Dulsat, Sonia Palomeras, Eric Cortada, Helena Riuró, Ramon Brugada, Marcel Vergés
BACKGROUND INFORMATION: Cardiac channelopathies arise by mutations in genes encoding ion channel subunits. One example is Brugada Syndrome (BrS), which causes arrhythmias and sudden death. BrS is often associated with mutations in SCN5A, encoding Nav 1.5, the α subunit of the major cardiac voltage-gated sodium channel. This channel forms a protein complex including one or two associated β subunits as well as other proteins. RESULTS: We analyzed regulation of Nav 1...
June 9, 2017: Biology of the Cell
https://www.readbyqxmd.com/read/28584071/scn5a-genetic-polymorphisms-associated-with-increased-defibrillator-shocks-in-brugada-syndrome
#3
Pattarapong Makarawate, Narumol Chaosuwannakit, Suda Vannaprasaht, Dujdao Sahasthas, Seok Hwee Koo, Edmund Jon Deoon Lee, Wichittra Tassaneeyakul, Hector Barajas-Martinez, Dan Hu, Kittisak Sawanyawisuth
BACKGROUND: Brugada syndrome (BrS) is an inherited primary arrhythmia disorder leading to sudden cardiac arrest. SCN5A, encoding the α-subunit of the cardiac sodium channel (Nav1.5), is the most common pathogenic gene of BrS. An implantable cardioverter defibrillator (ICD) is the standard treatment for secondary prevention. This study aimed to evaluate association of the SCN5A variant with this cardiac conduction disturbance and appropriate ICD shock therapy in Thai symptomatic BrS patients with ICD implants...
June 5, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28577096/association-of-polymorphism-in-scn5a-gja5-and-kcnn3-gene-with-sudden-cardiac-death
#4
A A Ivanova, V N Maksimov, D E Ivanoshchuk, P S Orlov, V P Novoselov, S V Savchenko, M I Voevoda
We studied association of single-nucleotide SCN5A (rs1805124), GJA5 (rs35594137), and KCNN3 (rs13376333) polymorphisms and sudden cardiac death. Humans died suddenly from cardiac causes (N=379) and unrelated sex- and age-matched control subjects were genotyped. No significant intergroup differences were found in the frequency of rs1805124 and rs13376333 genotypes and alleles. In women under 50 years, enhanced risk of sudden cardiac death was associated with rs35594137 GG genotype (OR=3.6; 95%CI=1.2-10.4; p=0...
June 3, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28557294/a-mechanism-for-nav-1-5-downregulation-and-sodium-current-decrease-in-heart-failure
#5
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/28552050/readthrough-of-scn5a-nonsense-mutations-r1623x-and-s1812x-question-gene-therapy-in-brugada-syndrome
#6
Siyong Teng, Jian Huang, Zhan Gao, Jie Hao, Yuejin Yang, Shu Zhang, Jielin Pu, Rutai Hui, Yongjian Wu, Zheng Fan
PURPOSE: Readthrough of nonsense mutation are used as gene-specific treatment in some genetic disease. Response to readthrough treatment is determined by readthrough efficiency of various nonsense mutations. In this manuscript, we aimed to explore the harmful effect of nonsense mutation suppressions. METHODS: HEK293 cells were transfected with two SCN5A (encode cardiac Na+ channel) nonsense mutations, p.R1623X and p.S1812X. We applied two readthrough-enhancing methods (either aminoglycosides or by a siRNA targeting eukaryotic release factor eRF3a (a GTPase that binds eRF1)) to suppress these SCN5A nonsense mutations...
May 28, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28534967/whole%C3%A2-exome-sequencing-identifies-a-novel-mutation-r367g-in-scn5a-to-be-associated-with-familial-cardiac-conduction-disease
#7
Rong Yu, Xue-Feng Fan, Chan Chen, Zheng-Hua Liu
Cardiac conduction disease is a primary cause of sudden cardiac death. Sodium voltage‑gated channel‑α subunit 5 (SCN5A) mutations have been reported to underlie a variety of inherited arrhythmias. Numerous disease‑causing mutations of SCN5A have been identified in patients with ≥10 different conditions, including type 3 long‑QT syndrome and Brugada syndrome. The present study investigated a family with a history of arrhythmia, with the proband having a history of arrhythmia and syncope. Whole‑exome sequencing was applied in order to detect the disease‑causing mutation in this family, and Sanger sequencing was used to confirm the co‑segregation among the family members...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28494446/mutation-load-of-multiple-ion-channel-gene-mutations-in-brugada-syndrome
#8
Francesca Gualandi, Fatima Zaraket, Michele Malagù, Giulia Parmeggiani, Cecilia Trabanelli, Sergio Fini, Xiao Dang, Xiaoming Wei, Mingyan Fang, Matteo Bertini, Roberto Ferrari, Alessandra Ferlini
Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic channelopathies (such as long QT syndrome), digenic inheritance has never been reported in Brugada syndrome. Exploring 66 cardiac genes using a new custom next-generation sequencing panel, we identified a double heterozygosity for pathogenic mutations in SCN5A and TRPM4 in a Brugada syndrome patient...
May 12, 2017: Cardiology
https://www.readbyqxmd.com/read/28493952/a-mutation-in-the-cacna1c-gene-leads-to-early-repolarization-syndrome-with-incomplete-penetrance-a-chinese-family-study
#9
Xin Liu, Yang Shen, Jinyan Xie, Huihui Bao, Qing Cao, Rong Wan, Xiaoming Xu, Hui Zhou, Lin Huang, Zhenyan Xu, Wengen Zhu, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
BACKGROUND: Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS: We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium channel gene CACNA1C by the direct sequencing of candidate genes. A concomitant gain-of-function variant in the sodium channel gene SCN5A (p...
2017: PloS One
https://www.readbyqxmd.com/read/28482396/-identification-of-an-scn5a-mutation-in-a-chinese-pedigree-with-a-history-of-syncope
#10
J Wang, G Y Dai, Y M Qin
No abstract text is available yet for this article.
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28469501/an-autopsy-case-of-sudden-unexpected-death-of-a-young-adult-in-a-hot-bath-molecular-analysis-using-next-generation-dna-sequencing
#11
Yukiko Hata, Koshi Kinoshita, Naoki Nishida
We report a case of sudden unexpected death of a young woman who was found in a bathtub of hot water. The autopsy concluded that all possible causes of sudden loss of consciousness, except cardiac origin, could be excluded. However, the heart did not show any obvious pathological changes. We used next-generation DNA sequencing (NGS) to examine 73 genes and detected 3 rare, potentially pathogenic variants with minor allele frequencies ⩽1.0%. The pathogenicity of these variants was evaluated using 8 in silico predictive algorithms, and SCN5A_p...
2017: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/28453732/corrigendum-to-multilevel-analyses-of-scn5a-mutations-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-suggest-non-canonical-mechanisms-for-disease-pathogenesis
#12
(no author information available yet)
No abstract text is available yet for this article.
May 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28438721/clinical-profile-and-mutation-spectrum-of-long-qt-syndrome-in-saudi-arabia-the-impact-of-consanguinity
#13
Zuhair N Al-Hassnan, Majid Al-Fayyadh, Bander Al-Ghamdi, Azam Shafquat, Yaseen Mallawi, Faten Al-Hadeq, Sahar Tulbah, Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Fadel Al Fadly, Ahmed S Hersi, Abdullah Alhayani, Amal Al-Hashem, Dia Arafah, Nduna Dzimiri, Brian Meyer, Monther Rababh, Waleed Al-Manea
BACKGROUND: Congenital long QT syndrome (LQTS) is an inherited, potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. OBJECTIVES: To describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population...
April 22, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28430892/anti-arrhythmic-potential-of-the-late-sodium-current-inhibitor-gs-458967-in-murine-scn5a-1798insd-and-human-scn5a-1795insd-ipsc-derived-cardiomyocytes
#14
Vincent Portero, Simona Casini, Maaike Hoekstra, Arie O Verkerk, Isabella Mengarelli, Luiz Belardinelli, Sridharan Rajamani, Arthur A M Wilde, Connie R Bezzina, Marieke W Veldkamp, Carol Ann Remme
Aims: Selective inhibition of cardiac late sodium current (INaL) is an emerging target in the treatment of ventricular arrhythmias. We investigated the electrophysiological effects of GS-458967 (GS967), a potent, selective inhibitor of INaL, in an overlap syndrome model of both gain and loss of sodium channel function, comprising cardiomyocytes derived from both human SCN5A-1795insD+/- induced pluripotent stem cells (hiPSC-CMs) and mice carrying the homologous mutation Scn5a-1798insD+/-...
June 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28412158/lidocaine-attenuation-testing-an-in%C3%A2-vivo-investigation-of-putative-lqt3-associated-variants-in-the-scn5a-encoded-sodium-channel
#15
Heather N Anderson, J Martijn Bos, Jamie D Kapplinger, Jana M Meskill, Dan Ye, Michael J Ackerman
BACKGROUND: Long QT syndrome type 3 (LQT3) accounts for 5%-10% of long QT syndrome and results from gain-of-function mutations in the SCN5A-encoded sodium channel. Approximately 2% of healthy individuals host rare SCN5A variants of uncertain significance (VUS). Distinction of true LQT3-causative mutations from background genetic noise is essential. OBJECTIVE: The purpose of this study was to assess the use of the lidocaine attenuation test (LAT) in evaluating patients with possible LQT3...
April 13, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28408648/azithromycin-causes-a-novel-proarrhythmic-syndrome
#16
Zhenjiang Yang, Joseph K Prinsen, Kevin R Bersell, Wangzhen Shen, Liudmila Yermalitskaya, Tatiana Sidorova, Paula B Luis, Lynn Hall, Wei Zhang, Liping Du, Ginger Milne, Patrick Tucker, Alfred L George, Courtney M Campbell, Robert A Pickett, Christian M Shaffer, Nagesh Chopra, Tao Yang, Bjorn C Knollmann, Dan M Roden, Katherine T Murray
BACKGROUND: The widely used macrolide antibiotic azithromycin increases risk of cardiovascular and sudden cardiac death, although the underlying mechanisms are unclear. Case reports, including the one we document here, demonstrate that azithromycin can cause rapid, polymorphic ventricular tachycardia in the absence of QT prolongation, indicating a novel proarrhythmic syndrome. We investigated the electrophysiological effects of azithromycin in vivo and in vitro using mice, cardiomyocytes, and human ion channels heterologously expressed in human embryonic kidney (HEK 293) and Chinese hamster ovary (CHO) cells...
April 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28404070/pathophysiology-of-irritable-bowel-syndrome
#17
REVIEW
Gerald J Holtmann, Alexander C Ford, Nicholas J Talley
Traditionally, irritable bowel syndrome has been considered to be a disorder with no known underlying structural or biochemical explanation, but this concept is likely to be outdated. In this Review we challenge the widely accepted view that irritable bowel syndrome is an unexplained brain-gut disorder. There is epidemiological evidence that, in a major subset of patients, gastrointestinal symptoms arise first and only later do incident mood disorders occur. Additionally, possible mechanisms for gut-brain dysfunction have been identified, suggesting primary gut disturbances might be the underlying cause in a subgroup...
October 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28391114/genotype-phenotype-dilemma-in-a-case-of-sudden-cardiac-death-with-the-e1053k-mutation-and-a-deletion-in-the-scn5a-gene
#18
T Jenewein, B M Beckmann, S Rose, H H Osterhues, U Schmidt, C Wolpert, P Miny, C Marschall, M Alders, C R Bezzina, A A M Wilde, S Kääb, S Kauferstein
Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM). In most of these inherited cardiac arrhythmia syndromes the phenotypical expression may range from asymptomatic phenotypes to sudden cardiac death (SCD). A 16-year-old female died during sleep. Autopsy did not reveal any explanation for her death and a genetic analysis was performed...
March 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28373245/an-east-asian-common-variant-vinculin-p-asp841his-was-associated-with-sudden-unexplained-nocturnal-death-syndrome-in-the-chinese-han-population
#19
Jianding Cheng, John W Kyle, Di Lang, Brandi Wiedmeyer, Jian Guo, Kun Yin, Lei Huang, Ravi Vaidyanathan, Terry Su, Jonathan C Makielski
BACKGROUND: We have identified the cardiomyopathy-susceptibility gene vinculin (VCL) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case. We addressed whether VCL common variant D841H is associated with SUNDS. METHODS AND RESULTS: In 8 of 120 SUNDS cases, we detected an East Asian common VCL variant p.Asp841His (D841H). Comparing the H841 allele frequency of the general population in the local database (15 of 1818) with SUNDS victims (10 of 240) gives an odds ratio for SUNDS of 5...
April 3, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28370132/infant-sudden-death-mutations-responsible-for-impaired-nav1-5-channel-trafficking-and-function
#20
Ivan Gando, Jace Morganstein, Kundan Jana, Thomas V McDonald, Yingying Tang, William A Coetzee
BACKGROUND: Two genetic variants in SCN5A, encoding the Nav1.5 Na(+) channel α-subunit, were found in a 5-month-old girl who died suddenly in her sleep. The first variant is a missense mutation, resulting in an amino acid change (Q1832E), which has been described (but not characterized) in a patient with Brugada syndrome. The second is a nonsense mutation that produces a premature stop codon and a C-terminal truncation (R1944Δ). METHODS AND RESULTS: To investigate their functional relevance with patch clamp experiments in transfected HEK-293 cells...
March 31, 2017: Pacing and Clinical Electrophysiology: PACE
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