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https://www.readbyqxmd.com/read/28193892/kv1-1-channelopathy-abolishes-presynaptic-spike-width-modulation-by-subthreshold-somatic-depolarization
#1
Umesh Vivekananda, Pavel Novak, Oscar D Bello, Yuri E Korchev, Shyam S Krishnakumar, Kirill E Volynski, Dimitri M Kullmann
Although action potentials propagate along axons in an all-or-none manner, subthreshold membrane potential fluctuations at the soma affect neurotransmitter release from synaptic boutons. An important mechanism underlying analog-digital modulation is depolarization-mediated inactivation of presynaptic Kv1-family potassium channels, leading to action potential broadening and increased calcium influx. Previous studies have relied heavily on recordings from blebs formed after axon transection, which may exaggerate the passive propagation of somatic depolarization...
February 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28185290/computational-analysis-of-the-human-sinus-node-action-potential-model-development-and-effects-of-mutations
#2
Alan Fabbri, Matteo Fantini, Ronald Wilders, Stefano Severi
The sinoatrial node (SAN) is the normal pacemaker of the mammalian heart.  Over several decades, a large amount of data on the ionic mechanisms underlying the spontaneous electrical activity of SAN pacemaker cells has been obtained, mostly in experiments on single cells isolated from rabbit SAN. This wealth of data has allowed the development of mathematical models of the electrical activity of rabbit SAN pacemaker cells. Our aim was to construct a more comprehensive model of the electrical activity of a human SAN pacemaker cell, using recently obtained electrophysiological data from human SAN pacemaker cells...
February 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28146053/cardiac-channelopathies-and-sudden-death-recent-clinical-and-genetic-advances
#3
REVIEW
Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Josep Brugada, Ramon Brugada, Oscar Campuzano
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia)...
January 29, 2017: Biology
https://www.readbyqxmd.com/read/28099415/structure-of-a-eukaryotic-cyclic-nucleotide-gated-channel
#4
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...
February 2, 2017: Nature
https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#5
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
#6
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/27997884/the-natural-plant-product-rottlerin-activates-kv7-1-kcne1-channels
#7
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
#8
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/27919766/brugada-syndrome-merely-a-ion-channelopathy-a-structural-heart-disease-or-mixed
#9
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/27882075/in-silico-evaluation-of-the-potential-antiarrhythmic-effect-of-epigallocatechin-3-gallate-on-cardiac-channelopathies
#10
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/27807200/molecular-determinants-of-bk-channel-functional-diversity-and-functioning
#11
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/27784845/potassium-channelopathies-and-gastrointestinal-ulceration
#12
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
https://www.readbyqxmd.com/read/27766308/cardiac-disease-and-arrhythmogenesis-mechanistic-insights-from-mouse-models
#13
Lois Choy, Jie Ming Yeo, Vivian Tse, Shing Po Chan, Gary Tse
The mouse is the second mammalian species, after the human, in which substantial amount of the genomic information has been analyzed. With advances in transgenic technology, mutagenesis is now much easier to carry out in mice. Consequently, an increasing number of transgenic mouse systems have been generated for the study of cardiac arrhythmias in ion channelopathies and cardiomyopathies. Mouse hearts are also amenable to physical manipulation such as coronary artery ligation and transverse aortic constriction to induce heart failure, radiofrequency ablation of the AV node to model complete AV block and even implantation of a miniature pacemaker to induce cardiac dyssynchrony...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/27761163/recent-advances-in-genetic-testing-and-counseling-for-inherited-arrhythmias
#14
Yuka Mizusawa
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27646203/a-novel-ryr2-loss-of-function-mutation-i4855m-is-associated-with-left-ventricular-non-compaction-and-atypical-catecholaminergic-polymorphic-ventricular-tachycardia
#15
Thomas M Roston, Wenting Guo, Andrew D Krahn, Ruiwu Wang, Filip Van Petegem, Shubhayan Sanatani, S R Wayne Chen, Anna Lehman
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 (RyR2). Left ventricular non-compaction (LVNC) is an often genetic cardiomyopathy. A rare LVNC-CPVT overlap syndrome may be caused by exon 3 deletion in RyR2. We sought to characterize the phenotypic spectrum and molecular basis of a novel RyR2 mutation identified in a family with both conditions. METHODS: Several members of an affected family underwent clinical and genetic assessments...
September 8, 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/27589477/channels-and-channelopathies
#16
P B Persson, A Bondke Persson
No abstract text is available yet for this article.
November 2016: Acta Physiologica
https://www.readbyqxmd.com/read/27558372/nalcn-channelopathies-distinguishing-gain-of-function-and-loss-of-function-mutations
#17
Eric G Bend, Yue Si, David A Stevenson, Pinar Bayrak-Toydemir, Tara M Newcomb, Erik M Jorgensen, Kathryn J Swoboda
OBJECTIVE: To perform genotype-phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS: We performed whole-exome sequencing in a preterm neonate with congenital arthrogryposis and a severe life-threatening clinical course. We examined the mechanism of pathogenicity of the associated NALCN mutation by engineering the orthologous mutation into the nematode C elegans using CRISPR-Cas9...
September 13, 2016: Neurology
https://www.readbyqxmd.com/read/27514480/ion-channelopathies-in-functional-gi-disorders
#18
REVIEW
Arthur Beyder, Gianrico Farrugia
In the gastrointestinal (GI) tract, abnormalities in secretion, absorption, motility, and sensation have been implicated in functional gastrointestinal disorders (FGIDs). Ion channels play important roles in all these GI functions. Disruptions of ion channels' ability to conduct ions can lead to diseases called ion channelopathies. Channelopathies can result from changes in ion channel biophysical function or expression due to mutations, posttranslational modification, and accessory protein malfunction. Channelopathies are strongly established in the fields of cardiology and neurology, but ion channelopathies are only beginning to be recognized in gastroenterology...
October 1, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/27378853/the-revolution-in-migraine-genetics-from-aching-channels-disorders-to-a-next-generation-medicine
#19
REVIEW
Simona Pellacani, Federico Sicca, Cherubino Di Lorenzo, Gaetano S Grieco, Giulia Valvo, Cristina Cereda, Anna Rubegni, Filippo M Santorelli
Channelopathies are a heterogeneous group of neurological disorders resulting from dysfunction of ion channels located in cell membranes and organelles. The clinical scenario is broad and symptoms such as generalized epilepsy (with or without fever), migraine (with or without aura), episodic ataxia and periodic muscle paralysis are some of the best known consequences of gain- or loss-of-function mutations in ion channels. We review the main clinical effects of ion channel mutations associated with a significant impact on migraine headache...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/27374078/rescuing-cardiac-automaticity-in-l-type-cav1-3-channelopathies-and-beyond
#20
Pietro Mesirca, Isabelle Bidaud, Matteo E Mangoni
Pacemaker activity of the sino-atrial node generates the heart rate. Disease of the sinus node and impairment of atrioventricular conduction induce an excessively low ventricular rate (bradycardia), which cannot meet the needs of the organism. Bradycardia accounts for about half of the total workload of clinical cardiologists. The 'sick sinus' syndrome (SSS) is characterized by sinus bradycardia and periods of intermittent atrial fibrillation. Several genetic or acquired risk factors or pathologies can lead to SSS...
October 15, 2016: Journal of Physiology
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