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https://www.readbyqxmd.com/read/28099415/structure-of-a-eukaryotic-cyclic-nucleotide-gated-channel
#1
Minghui Li, Xiaoyuan Zhou, Shu Wang, Ioannis Michailidis, Ye Gong, Deyuan Su, Huan Li, Xueming Li, Jian Yang
Cyclic-nucleotide-gated channels are essential for vision and olfaction. They belong to the voltage-gated ion channel superfamily but their activities are controlled by intracellular cyclic nucleotides instead of transmembrane voltage. Here we report a 3.5-Å-resolution single-particle electron cryo-microscopy structure of a cyclic-nucleotide-gated channel from Caenorhabditis elegans in the cyclic guanosine monophosphate (cGMP)-bound open state. The channel has an unusual voltage-sensor-like domain, accounting for its deficient voltage dependence...
January 18, 2017: Nature
https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#2
REVIEW
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano
Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#3
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28024841/a-novel-ile1455thr-variant-in-the-skeletal-muscle-sodium-channel-alpha-subunit-in-a-patient-with-a-severe-adult-onset-proximal-myopathy-with-electrical-myotonia-and-a-patient-with-mild-paramyotonia-phenotype
#4
Marcin Bednarz, Bas C Stunnenberg, Benno Kusters, Erik-Jan Kamsteeg, Christiaan G Saris, James Groome, Vern Winston, Giovanni Meola, Karin Jurkat-Rott, Nicol C Voermans
In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare. We describe two unrelated patients with a novel variant, p.Ile1455Thr, with phenotypes of paramyotonia in one case and fixed proximal myopathy with latent myotonia in another. In-vitro whole cell patch-clamp studies show that the mutation slows inactivation and accelerates recovery, in line with other paramyotonia variants with destabilized fast inactivation as pathomechanism. Additionally, p.IleI1455 causes a loss-of-function by reduced membrane insertion, right-shift of activation, and slowed kinetics...
October 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28024840/intrafamilial-phenotypic-variability-in-andersen-tawil-syndrome-a-diagnostic-challenge-in-a-potentially-treatable-condition
#5
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28011803/the-italian-subcutaneous-implantable-cardioverter-defibrillator-survey-s-icd-why-not
#6
Giovanni Luca Botto, Giovanni B Forleo, Alessandro Capucci, Francesco Solimene, Antonello Vado, Giovanni Bertero, Pietro Palmisano, Ennio Pisanò, Antonio Rapacciuolo, Tommaso Infusino, Alessandro Vicentini, Miguel Viscusi, Paola Ferrari, Antonello Talarico, Giovanni Russo, Giuseppe Boriani, Luigi Padeletti, Mariolina Lovecchio, Sergio Valsecchi, Antonio D'Onofrio
AIMS: A recommendation for a subcutaneous-implantable cardioverter-defibrillator (S-ICD) has been added to recent European Society of Cardiology Guidelines. However, the S-ICD is not ideally suitable for patients who need pacing. The aim of this survey was to analyse the current practice of ICD implantation and to evaluate the actual suitability of S-ICD. METHODS AND RESULTS: The survey 'S-ICD Why Not?' was an independent initiative taken by the Italian Heart Rhythm Society (AIAC)...
December 23, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28008953/glycosuria-and-renal-outcomes-in-patients-with-nondiabetic-advanced-chronic-kidney-disease
#7
Chi-Chih Hung, Hugo You-Hsien Lin, Jia-Jung Lee, Lee Moay Lim, Yi-Wen Chiu, Heng-Pin Chiang, Shang-Jyh Hwang, Hung-Chun Chen
Sodium glucose cotransporter 2 inhibitors have shown a potential for renoprotection beyond blood glucose lowering. Glycosuria in nondiabetic patients with chronic kidney disease (CKD) is sometimes noted. Whether glycosuria in CKD implies a channelopathy or proximal tubulopathy is not known. The consequence of glycosuria in CKD is also not studied. We performed a cross-sectional study for the association between glycosuria and urine electrolyte excretion in 208 nondiabetic patients. Fractional excretion (FE) of glucose >4% was 3...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27997884/the-natural-plant-product-rottlerin-activates-kv7-1-kcne1-channels
#8
Veronika Matschke, Ilaria Piccini, Janina Schubert, Eva Wrobel, Florian Lang, Johann Matschke, Elsie Amedonu, Sven G Meuth, Timo Strünker, Nathalie Strutz-Seebohm, Boris Greber, Jürgen Scherkenbeck, Guiscard Seebohm
BACKGROUND/AIMS: Acquired as well as inherited channelopathies are disorders that are caused by altered ion channel function. A family of channels whose malfunction is associated with different channelopathies is the Kv7 K+ channel family; and restoration of normal Kv7 channel function by small molecule modulators is a promising approach for treatment of these often fatal diseases. METHODS: Here, we show the modulation of Kv7 channels by the natural compound Rottlerin heterologously expressed in Xenopus laevis oocytes and on iPSC cardiomyocytes overexpressing Kv7...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27987400/an-insertion-deletion-polymorphism-within-3-utr-of-ryr2-modulates-sudden-unexplained-death-risk-in-chinese-populations
#9
Shouyu Wang, Zhixiang Zhang, Ya Yang, Chaoqun Wang, Ruiyang Tao, Shuxiang Hu, Zhixia Yin, Qing Zhang, Lijuan Li, Yan He, Shaohua Zhu, Chengtao Li, Suhua Zhang, Jianhua Zhang, Lihui Sheng, Fangyu Wu, Bin Luo, Yuzhen Gao
Sudden unexplained death (SUD) constitutes a part of the overall sudden death that can not be underestimated. Over the last years, genetic testing on SUD has revealed that inherited channelopathies might play important roles in the pathophysiology of this disease. Ryanodine receptor type-2 (RYR2) is a kind of ion channel extensively distributed in the sarcoplasmic reticulum (SR) of myocardium. Studies on RYR2 have suggested that either dysfunction or abnormal expression of it could lead to arrhythmia, which may cause cardiac arrest...
December 9, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27922499/the-dystrophic-and-nondystrophic-myotonias
#10
Valeria A Sansone
PURPOSE OF REVIEW: This article describes clinical and electrical myotonia and provides an update on the classification, diagnosis, and management of myotonic disorders. RECENT FINDINGS: In the myotonic dystrophies, antisense oligonucleotides provide a general strategy to correct RNA gain of function and modulate the expression of CTG expanded repeats; they are currently being tested in a phase 1-2 randomized controlled trial in patients with adult-onset myotonic dystrophy type 1...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27919766/brugada-syndrome-merely-a-ion-channelopathy-a-structural-heart-disease-or-mixed
#11
EDITORIAL
Jyh-Ming Jimmy Juang, Jiunn-Lee Lin
No abstract text is available yet for this article.
December 3, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27899619/the-nextprot-knowledgebase-on-human-proteins-2017-update
#12
Pascale Gaudet, Pierre-André Michel, Monique Zahn-Zabal, Aurore Britan, Isabelle Cusin, Marcin Domagalski, Paula D Duek, Alain Gateau, Anne Gleizes, Valérie Hinard, Valentine Rech de Laval, JinJin Lin, Frederic Nikitin, Mathieu Schaeffer, Daniel Teixeira, Lydie Lane, Amos Bairoch
The neXtProt human protein knowledgebase (https://www.nextprot.org) continues to add new content and tools, with a focus on proteomics and genetic variation data. neXtProt now has proteomics data for over 85% of the human proteins, as well as new tools tailored to the proteomics community.Moreover, the neXtProt release 2016-08-25 includes over 8000 phenotypic observations for over 4000 variations in a number of genes involved in hereditary cancers and channelopathies. These changes are presented in the current neXtProt update...
January 4, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/27882075/in-silico-evaluation-of-the-potential-antiarrhythmic-effect-of-epigallocatechin-3-gallate-on-cardiac-channelopathies
#13
Maroua Boukhabza, Jaouad El Hilaly, Nourdine Attiya, Ahmed El-Haidani, Younes Filali-Zegzouti, Driss Mazouzi, Mohamed-Yassine Amarouch
Ion channels are transmembrane proteins that allow the passage of ions according to the direction of their electrochemical gradients. Mutations in more than 30 genes encoding ion channels have been associated with an increasingly wide range of inherited cardiac arrhythmias. In this line, ion channels become one of the most important molecular targets for several classes of drugs, including antiarrhythmics. Nevertheless, antiarrhythmic drugs are usually accompanied by some serious side effects. Thus, developing new approaches could offer added values to prevent and treat the episodes of arrhythmia...
2016: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#14
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27844191/-indications-for-implantable-loop-recorders-in-patients-with-channelopathies-and-ventricular-tachycardias
#15
Julia Köbe, Kristina Wasmer, Florian Reinke, Lars Eckardt
Implantable loop recorders (ILR) do not play a pivotal role in the current guidelines on ventricular arrhythmias except in identifying rhythm-symptom correlations if ventricular arrhythmias are assumed. Before a decision for a pure diagnostic implantable device is made, a thorough arrhythmic risk assessment is of major importance due to the potential lethal outcome of ventricular arrhythmias. Nevertheless, some clinical circumstances exist where long-term monitoring by an ILR may add significant information in electrical heart diseases, in patients with ventricular arrhythmias, or structural heart diseases and a potential risk of ventricular arrhythmias...
December 2016: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/27826330/management-of-patients-with-long-qt-syndrome
#16
REVIEW
Yongkeun Cho
Long QT syndrome (LQTS) is a rare cardiac channelopathy associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. Management of patients with LQTS consists of life-style modification, β-blockers, left cardiac sympathetic denervation (LCSD), and implantable cardioverter-defibrillator (ICD) implantation. Prohibition of competitive exercise and avoidance of QT-prolonging drugs are important issues in life-style modification...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27821197/the-association-between-pro-arrhythmic-agents-and-aortic-stenosis-in-young-adults-is-it-sufficient-to-clarify-the-sudden-unexpected-deaths
#17
Bojana Radnic, Nemanja Radojevic, Jelena Vucinic, Natasa Duborija-Kovacevic
Most young patients with mild-to-moderate aortic stenosis show no symptoms, and sudden death appears only occasionally. We hypothesised that malignant ventricular arrhythmias could be responsible for the high incidence of sudden death in such patients. If multiple factors such as asymptomatic aortic stenosis in association with arrhythmia-provoking agents are involved, could it be sufficient to account for sudden unexpected death? In this study, eight cases of sudden death in young adults, with ages ranging from 22 to 36 years, who had never reported any symptoms that could be related to aortic stenosis, were investigated...
November 8, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27807200/molecular-determinants-of-bk-channel-functional-diversity-and-functioning
#18
REVIEW
Ramon Latorre, Karen Castillo, Willy Carrasquel-Ursulaez, Romina V Sepulveda, Fernando Gonzalez-Nilo, Carlos Gonzalez, Osvaldo Alvarez
Large-conductance Ca(2+)- and voltage-activated K(+) (BK) channels play many physiological roles ranging from the maintenance of smooth muscle tone to hearing and neurosecretion. BK channels are tetramers in which the pore-forming α subunit is coded by a single gene (Slowpoke, KCNMA1). In this review, we first highlight the physiological importance of this ubiquitous channel, emphasizing the role that BK channels play in different channelopathies. We next discuss the modular nature of BK channel-forming protein, in which the different modules (the voltage sensor and the Ca(2+) binding sites) communicate with the pore gates allosterically...
January 2017: Physiological Reviews
https://www.readbyqxmd.com/read/27787228/ubiquitination-and-proteasome-mediated-degradation-of-voltage-gated-ca2-channels-and-potential-pathophysiological-implications
#19
Ricardo Felix, Norbert Weiss
Recent findings have revealed a fundamental role of the ubiquitin-proteasome system (UPS) in the regulation of voltage-gated Ca2+ channels (VGCCs). It has been proposed that the ubiquitination-deubiquitination balance dictates the number of channels expressed at the plasma membrane, which in turn influences a number of physiological and pathophysiological processes. This minireview surveys recent studies showing that VGCCs may be ubiquitinated in an unexpectedly complex manner, and highlights the role of the UPS in the regulation of the channels, focusing on the mechanisms that control their cell surface expression...
January 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/27784845/potassium-channelopathies-and-gastrointestinal-ulceration
#20
REVIEW
Jaeyong Han, Seung Hun Lee, Gerhard Giebisch, Tong Wang
Potassium channels and transporters maintain potassium homeostasis and play significant roles in several different biological actions via potassium ion regulation. In previous decades, the key revelations that potassium channels and transporters are involved in the production of gastric acid and the regulation of secretion in the stomach have been recognized. Drugs used to treat peptic ulceration are often potassium transporter inhibitors. It has also been reported that potassium channels are involved in ulcerative colitis...
November 15, 2016: Gut and Liver
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