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https://www.readbyqxmd.com/read/29132927/whole-exome-sequencing-identified-a-pathogenic-mutation-in-ryr2-in-a-chinese-family-with-unexplained-sudden-death
#1
Yubi Lin, Siqi He, Zili Liao, Ruiling Feng, Ruilin Liu, Yongzheng Peng, Nan Yu, Hang Qi, Jia Chen, Zifeng Huang, Heping Lei, Yang Liu, Fang Rao, Chunyu Deng, Yumei Xue, Guolin Zhang, Bin Zhang, Hua Yao, Shulin Wu
OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms...
October 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29128504/biophysical-comparison-of-sodium-currents-in-native-cardiac-myocytes-and-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#2
Robert J Goodrow, Suveer Desai, Jacqueline A Treat, Brian K Panama, Mayurika Desai, Vladislav V Nesterenko, Jonathan M Cordeiro
INTRODUCTION: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are used for safety pharmacology and to investigate genetic diseases affecting cardiac ion channels. It is unclear whether adult myocytes or hiPSC-CMs are the better platform for cardiac safety pharmacology. We examined the biophysical and molecular properties of INa in adult myocytes and hiPSC-CMs. METHODS: hiPSC-CMs were plated at low density. Atrial and ventricular cells were obtained from dog hearts...
November 8, 2017: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/29121719/implantable-cardioverter-defibrillator-therapy-in-repaired-tetralogy-of-fallot-after-pulmonary-valve-replacement-implications-for-the-mechanism-of-ventricular-arrhythmia
#3
Shuenn-Nan Chiu, Shu-Chien Huang, Jou-Kou Wang, Chun-Wei Lu, Ling-Yin Chang, Ming-Tai Lin, Chun-An Chen, Yih-Sharng Chen, Mei-Hwan Wu
BACKGROUND: Ventricular tachycardia (VT), which is related to haemodynamic and electrophysiological alterations, is an important complication in repaired tetralogy of Fallot (rTOF) patients. We defined the role of implantable cardioverter defibrillator (ICD) therapy after pulmonary valve replacement (PVR) and the implications of coexisting long QT gene mutations/polymorphisms. METHODS: From 2003 to 2016, rTOF patients with VT who received ICD implantation were enrolled...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29101013/the-congenital-long-qt-syndrome-type-3-an-update
#4
REVIEW
Andrés Ricardo Pérez-Riera, Raimundo Barbosa-Barros, Rodrigo Daminello Raimundo, Marianne Penachini da Costa de Rezende Barbosa, Isabel Cristina Esposito Sorpreso, Luiz Carlos de Abreu
Congenital long QT syndrome type 3 (LQT3) is the third in frequency compared to the 15 forms known currently of congenital long QT syndrome (LQTS). Cardiac events are less frequent in LQT3 when compared with LQT1 and LQT2, but more likely to be lethal; the likelihood of dying during a cardiac event is 20% in families with an LQT3 mutation and 4% with either an LQT1 or an LQT2 mutation. LQT3 is consequence of mutation of gene SCN5A which codes for the Nav1.5 Na(+) channel α-subunit and electrocardiographically characterized by a tendency to bradycardia related to age, prolonged QT/QTc interval (mean QTc value 478 ± 52 ms), accentuated QT dispersion consequence of prolonged ST segment, late onset of T wave and frequent prominent U wave because of longer repolarization of the M cell across left ventricular wall...
October 31, 2017: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29077258/whole-exome-sequencing-identifies-a-novel-mutation-of-gpd1l-r189x-associated-with-familial-conduction-disease-and-sudden-death
#5
Hao Huang, Ya-Qin Chen, Liang-Liang Fan, Shuai Guo, Jing-Jing Li, Jie-Yuan Jin, Rong Xiang
Cardiac conduction disease (CCD) is a serious disorder and the leading cause of mortality worldwide. It is characterized by arrhythmia, syncope or even sudden cardiac death caused by the dysfunction of cardiac voltage-gated channel. Previous study has demonstrated that mutations in genes encoding voltage-gated channel and related proteins were the crucial genetic lesion of CCD. In this study, we employed whole-exome sequencing to explore the potential causative genes in a Chinese family with ventricular tachycardia and syncope...
October 27, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29071820/application-of-multigene-panel-sequencing-in-patients-with-prolonged-rate-corrected-qt-interval-and-no-pathogenic-variants-detected-in-kcnq1-kcnh2-and-scn5a
#6
Soo Hyun Seo, So Yeon Kim, Sung Im Cho, Hyunwoong Park, Seungjun Lee, Jong Moon Choi, Man Jin Kim, Jee Soo Lee, Kyung Jin Ahn, Mi Kyoung Song, Eun Jung Bae, Sung Sup Park, Moon Woo Seong
Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%)...
January 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29062695/inaccurate-diagnosis-of-brugada-syndrome-in-a-healthy-woman-based-on-scn5a-mutation-classification
#7
Simrit K Warring, Heather N Anderson, J Martijn Bos, Michael J Ackerman
No abstract text is available yet for this article.
October 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/29056961/determination-of-action-potential-wavelength-restitution-in-scn5a-mouse-hearts-modelling-human-brugada-syndrome
#8
Gary Tse, Sheung Ting Wong, Vivian Tse, Jie Ming Yeo
No abstract text is available yet for this article.
September 2017: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/29032483/regulation-of-cardiac-voltage-gated-sodium-channel-by-kinases-roles-of-protein-kinases-a-and-c
#9
Ademuyiwa S Aromolaran, Mohamed Chahine, Mohamed Boutjdir
In the heart, voltage-gated sodium (Nav) channel (Nav1.5) is defined by its pore-forming α-subunit and its auxiliary β-subunits, both of which are important for its critical contribution to the initiation and maintenance of the cardiac action potential (AP) that underlie normal heart rhythm. The physiological relevance of Nav1.5 is further marked by the fact that inherited or congenital mutations in Nav1.5 channel gene SCN5A lead to altered functional expression (including expression, trafficking, and current density), and are generally manifested in the form of distinct cardiac arrhythmic events, epilepsy, neuropathic pain, migraine, and neuromuscular disorders...
October 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29024690/sodium-channel-current-loss-of-function-in-induced-pluripotent-stem-cell-derived-cardiomyocytes-from-a-brugada-syndrome-patient
#10
Elisabet Selga, Franziska Sendfeld, Rebecca Martinez-Moreno, Claire N Medine, Olga Tura-Ceide, Sir Ian Wilmut, Guillermo J Pérez, Fabiana S Scornik, Ramon Brugada, Nicholas L Mills
Brugada syndrome predisposes to sudden death due to disruption of normal cardiac ion channel function, yet our understanding of the underlying cellular mechanisms is incomplete. Commonly used heterologous expression models lack many characteristics of native cardiomyocytes and, in particular, the individual genetic background of a patient. Patient-specific induced pluripotent stem (iPS) cell-derived cardiomyocytes (iPS-CM) may uncover cellular phenotypical characteristics not observed in heterologous models...
October 9, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28988457/re-evaluating-pathogenicity-of-variants-associated-with-the-long-qt-syndrome
#11
Jonathan R Kaltman, Frank Evans, Yi-Ping Fu
INTRODUCTION: Genetic testing for congenital long-QT syndrome (LQTS) has become common. Recent studies have shown that some variants labelled as pathogenic might be misclassified due to sparse case reports and relatively common allele frequencies in the general population. This study aims to evaluate the presence of LQTS-associated variants in the Genome Aggregation Database (gnomAD) population, and assess the functional impact of these variants. METHODS AND RESULTS: Variants associated with LQTS from the Human Gene Mutation Database were extracted and matched to the gnomAD to evaluate population-based allele frequencies (AF)...
October 8, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28965168/cardiac-arrhythmias-related-to-sodium-channel-dysfunction
#12
Eleonora Savio-Galimberti, Mariana Argenziano, Charles Antzelevitch
The voltage-gated cardiac sodium channel (Nav1.5) is a mega-complex comprised of a pore-forming α subunit and 4 ancillary β-subunits together with numerous protein partners. Genetic defects in the form of rare variants in one or more sodium channel-related genes can cause a loss- or gain-of-function of sodium channel current (INa) leading to the manifestation of various disease phenotypes, including Brugada syndrome, long QT syndrome, progressive cardiac conduction disease, sick sinus syndrome, multifocal ectopic Purkinje-related premature contractions, and atrial fibrillation...
October 1, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28962528/editor-s-highlight-the-altered-dna-methylome-of-chronic-doxorubicin-exposure-in-sprague-dawley-rats
#13
Kendra K S Nordgren, Marshall Hampton, Kendall B Wallace
Doxorubicin (DOX) is a widely used treatment for human cancers, but increases the risk of life-threatening congestive heart failure (CHF). DOX-induced mitochondrial damage is cumulative and persistent, similar to that observed clinically for risk of CHF. Recent evidence suggests the persistent nature of this injury is caused by altered regulation of genes important to normal cardiac functioning. We hypothesize that chronic DOX therapy is associated with epigenetic modifications of DNA methylation status, particularly in critical regulators of mitochondrial function and capacity...
October 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28916354/abnormal-sodium-channel-mrna-splicing-in-hypertrophic-cardiomyopathy
#14
Adam M Noyes, Anyu Zhou, Ge Gao, Lianzhi Gu, Sharlene Day, J Andrew Wasserstrom, Samuel C Dudley
BACKGROUND: Our previous studies showed that in ischemic and nonischemic heart failure (HF), the voltage-gated cardiac Na(+) channel α subunit (SCN5A) mRNA is abnormally spliced to produce two truncated transcript variants (E28C and D) that activate the unfolded protein response (UPR). We tested whether SCN5A post-transcriptional regulation was abnormal in hypertrophic cardiomyopathy (HCM). MATERIAL AND METHODS: Human heart tissue was obtained from HCM patients...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28894151/the-effects-of-ageing-and-adrenergic-challenge-on-electrocardiographic-phenotypes-in-a-murine-model-of-long-qt-syndrome-type-3
#15
Karan R Chadda, Shiraz Ahmad, Haseeb Valli, Ingrid den Uijl, Ali Bak Al-Hadithi, Samantha C Salvage, Andrew A Grace, Christopher L-H Huang, Kamalan Jeevaratnam
Long QT Syndrome 3 (LQTS3) arises from gain-of-function Nav1.5 mutations, prolonging action potential repolarisation and electrocardiographic (ECG) QT interval, associated with increased age-dependent risk for major arrhythmic events, and paradoxical responses to β-adrenergic agents. We investigated for independent and interacting effects of age and Scn5a+/ΔKPQ genotype in anaesthetised mice modelling LQTS3 on ECG phenotypes before and following β-agonist challenge, and upon fibrotic change. Prolonged ventricular recovery was independently associated with Scn5a+/ΔKPQ and age...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28878402/genetic-mechanisms-contribute-to-the-development-of-heart-failure-in-patients-with-atrioventricular-block-and-right-ventricular-apical-pacing
#16
Nana Liu, Min Zheng, Shijie Li, Hui Bai, Zhouying Liu, Cui Hong Hou, Shu Zhang, Jielin Pu
Right ventricular apical (RVA) pacing can lead to progressive left ventricular dysfunction and heart failure (HF), even in patients with normal cardiac structure and function. Our study conducted candidate gene screening and lentivirus transfected neonatal rat cardiomyocytes (NRCMs) to explore the genetic and pathogenic mechanisms of RVA pacing induced cardiomyopathy in third degree atrioventricular block (III AVB) patients. We followed 887 III AVB patients with baseline normal cardiac function and RVA pacing...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28871186/analysis-of-population-specific-pharmacogenomic-variants-using-next-generation-sequencing-data
#17
Eunyong Ahn, Taesung Park
Functional rare variants in drug-related genes are believed to be highly differentiated between ethnic- or racial populations. However, knowledge of population differentiation (PD) of rare single-nucleotide variants (SNVs), remains widely lacking, with the highest fixation indices, (Fst values), from both rare and common variants annotated to specific genes, having only been marginally used to understand PD at the gene level. In this study, we suggest a new, gene-based PD method, PD of Rare and Common variants (PDRC), for analyzing rare variants, as inspired by Generalized Cochran-Mantel-Haenszel (GCMH) statistics, to identify highly population-differentiated drug response-related genes ("pharmacogenes")...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28871128/synergistic-effect-of-bdnf-and-fgf2-in-efficient-generation-of-functional-dopaminergic-neurons-from-human-mesenchymal-stem-cells
#18
Manisha Singh, Anupama Kakkar, Rinkey Sharma, O P Kharbanda, Nitika Monga, Manish Kumar, Shantanu Chowdhary, Balram Airan, Sujata Mohanty
To understand the process of neurogenesis, generation of functional dopaminergic (DAergic) neurons from human mesenchymal stem cells (hMSCs) is important. BDNF has been reported to be responsible for inducing neuronal maturation and functionality. Previously, we have reported the efficient generation of neurons from human bone marrow derived MSCs using FGF2 alone. We hypothesize that hMSCs from various tissues [(bone marrow (BM), adipose tissue (AD) and dental pulp (DP)], if treated with BDNF on 9(th) day of induction, alongwith FGF2 will generate functional DAergic neurons...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28837624/rare-variants-in-genes-encoding-the-cardiac-sodium-channel-and-associated-compounds-and-their-impact-on-outcome-of-catheter-ablation-of-atrial-fibrillation
#19
Daniela Husser, Laura Ueberham, Gerhard Hindricks, Petra Büttner, Christie Ingram, Peter Weeke, M Benjamin Shoemaker, Volker Adams, Arash Arya, Philipp Sommer, Dawood Darbar, Dan M Roden, Andreas Bollmann
AIM: Rare variants of genes encoding the cardiac sodium channel and associated compounds have been linked with atrial fibrillation (AF). Nevertheless, current expert consensus does not support genetic testing in AF, which is in part based on the fact that "there is no therapeutic impact derived from AF genetic test results". However, there are no studies available supporting this recommendation. Consequently, this study analyzed the impact of rare variants affecting the cardiac sodium channel on rhythm outcome of AF catheter ablation...
2017: PloS One
https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#20
Michaela Zigova, Jarmila Bernasovska, Iveta Boronova, Marta Mydlarova Blascakova, Jan Kmec
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58...
August 16, 2017: Journal of Clinical Laboratory Analysis
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