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https://www.readbyqxmd.com/read/29350269/exome-analysis-in-34-sudden-unexplained-death-sud-victims-mainly-identified-variants-in-channelopathy-associated-genes
#1
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden cardiac death (SCD) is one of the major causes of mortality worldwide, mostly involving coronary artery disease in the elderly. In contrary, sudden death events in young victims often represent the first manifestation of undetected genetic cardiac diseases, which remained without any symptoms during lifetime. Approximately 30% of these sudden death cases have no definite cardiac etiology after a comprehensive medicolegal investigation and are therefore termed as sudden unexplained death (SUD) cases. Advances in high-throughput sequencing approaches have provided an efficient diagnostic tool to identify likely pathogenic variants in cardiovascular disease-associated genes in otherwise autopsy-negative SUD cases...
January 19, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29344776/dawning-of-a-new-era-in-trp-channel-structural-biology-by-cryo-electron-microscopy
#2
REVIEW
M Gregor Madej, Christine M Ziegler
Cryo-electron microscopy (cryo-EM) permits the determination of atomic protein structures by averaging large numbers of individual projection images recorded at cryogenic temperatures-a method termed single-particle analysis. The cryo-preservation traps proteins within a thin glass-like ice layer, making literally a freeze image of proteins in solution. Projections of randomly adopted orientations are merged to reconstruct a 3D density map. While atomic resolution for highly symmetric viruses was achieved already in 2009, the development of new sensitive and fast electron detectors has enabled cryo-EM for smaller and asymmetrical proteins including fragile membrane proteins...
January 17, 2018: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/29336212/simulated-microgravity-impairs-cardiac-autonomic-neurogenesis-from-neural-crest-cells
#3
Konstantinos E Hatzistergos, Zhijie Jiang, Krystalenia Valasaki, Lauro M Takeuchi, Wayne Balkan, Preethi Atluri, Dieter Saur, Barbara Seidler, Nicholas Tsinoremas, Darcy DiFede, Joshua M Hare
Microgravity-induced alterations in the autonomic nervous system (ANS) contribute to derangements in both the mechanical and electrophysiologic function of the cardiovascular system, leading to severe symptoms in humans following space travel. Because the ANS forms embryonically from neural crest progenitors (NCs), we hypothesized that microgravity can impair NC derived cardiac structures. Accordingly, we conducted in vitro simulated microgravity experiments employing NC genetic lineage-tracing in mice with cKitCreERT2/+, Isl1nLacZ and Wnt1-Cre reporter alleles...
January 16, 2018: Stem Cells and Development
https://www.readbyqxmd.com/read/29331839/functional-characterization-of-a-novel-herg-variant-in-a-family-with-recurrent-sudden-infant-death-syndrome-retracting-a-genetic-diagnosis
#4
Valentine Sergeev, Frances Perry, Thomas M Roston, Shubhayan Sanatani, Glen F Tibbits, Thomas W Claydon
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2...
December 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29327340/shank3-deficient-thalamocortical-neurons-show-hcn-channelopathy-and-alterations-in-intrinsic-electrical-properties
#5
Mengye Zhu, VinayKumar Idikuda, Jianbing Wang, Fusheng Wei, Virang Kumar, Nikhil Shah, Christopher B Waite, Qinglian Liu, Lei Zhou
Shank3 is a scaffolding protein that is highly enriched in excitatory synapses. Mutations in Shank3 gene have been linked to neuropsychiatric disorders especially the Autism Spectrum Disorders (ASD). Shank3 deficiency is known to cause impairments in synaptic transmission, but its effects on basic neuronal electrical properties that are more localized to the soma and proximal dendrites remain unclear. Here we confirmed that in heterologous expression systems two different Shank3 isoforms, Shank3A and Shank3C, significant increase the surface expression of the hyperpolarization-activated, cyclic-nucleotide-gated (HCN) channel...
January 12, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29322723/thyrotoxic-channelopathies
#6
Pankaj Singhai, Shruti Krishnan, Vikram Uttam Patil
Thyrotoxic periodic paralysis (TPP), a disorder most commonly seen in Asian men, is characterized by abrupt onset of hypokalemia and paralysis. The condition primarily affects the lower extremities and is secondary to thyrotoxicosis. Early recognition of TPP is vital to initiating appropriate treatment and to avoiding the risk of rebound hyperkalemia that may occur if high-dose potassium replacement is given. Here we present a case of 31 year old male with thyrotoxic periodic paralysis with diagnostic and therapeutic approach...
November 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29318638/voltage-gated-sodium-channels-nav-igating-the-field-to-determine-their-contribution-to-visceral-nociception
#7
Andelain Erickson, Annemie Deiteren, Andrea M Harrington, Sonia Garcia-Caraballo, Joel Castro, Ashlee Caldwell, Luke Grundy, Stuart M Brierley
Chronic visceral pain, altered motility and bladder dysfunction are common, yet poorly managed symptoms of functional and inflammatory disorders of the gastrointestinal and urinary tracts. Recently, numerous human channelopathies of the voltage-gated sodium (NaV ) channel family have been identified, which induce either painful neuropathies, an insensitivity to pain, or alterations in smooth muscle function. The identification of these disorders, in addition to the recent utilisation of genetically modified NaV mice and specific NaV channel modulators, has shed new light on how NaV channels contribute to the function of neuronal and non-neuronal tissues within the gastrointestinal tract and bladder...
January 9, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29297590/involvement-of-the-delayed-rectifier-outward-potassium-channel-kv2-1-in-methamphetamine-induced-neuronal-apoptosis-via-the-p38-mitogen-activated-protein-kinase-signaling-pathway
#8
Jingying Zhu, Songsong Zang, Xufeng Chen, Lei Jiang, Aihua Gu, Jie Cheng, Li Zhang, Jun Wang, Hang Xiao
Methamphetamine (Meth) is an illicit psychostimulant with high abuse potential and severe neurotoxicity. Recent studies have shown that dysfunctions in learning and memory induced by Meth may partially reveal the mechanisms of neuronal channelopathies. Kv2.1, the primary delayed rectifying potassium channel in neurons, is responsible for mediating apoptotic current surge. However, whether Kv2.1 is involved in Meth-mediated neural injury remains unknown. In the present study, the treatment of primary cultured hippocampal neurons with Meth indicated that Meth induced a time- and dose-dependent augmentation of Kv2...
January 3, 2018: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/29297264/mirror-neurons-modeled-through-spike-timing-dependent-plasticity-are-affected-by-channelopathies-associated-with-autism-spectrum-disorder
#9
Gabriela Antunes, Samuel F Faria da Silva, Fabio M Simoes de Souza
Mirror neurons fire action potentials both when the agent performs a certain behavior and watches someone performing a similar action. Here, we present an original mirror neuron model based on the spike-timing-dependent plasticity (STDP) between two morpho-electrical models of neocortical pyramidal neurons. Both neurons fired spontaneously with basal firing rate that follows a Poisson distribution, and the STDP between them was modeled by the triplet algorithm. Our simulation results demonstrated that STDP is sufficient for the rise of mirror neuron function between the pairs of neocortical neurons...
November 28, 2017: International Journal of Neural Systems
https://www.readbyqxmd.com/read/29285623/right-versus-left-parasternal-electrode-position-in-the-entirely-subcutaneous-icd
#10
Markus Bettin, Dirk Dechering, Gerrit Frommeyer, Robert Larbig, Andreas Löher, Florian Reinke, Julia Köbe, Lars Eckardt
OBJECTIVES: The subcutaneous implantable cardioverter defibrillator (S-ICD®) has been established as an alternative to conventional transvenous ICD for the prevention of sudden cardiac death. Initial studies have shown safety and efficacy of the system with a left parasternal (LP) electrode. However, several case studies reported a right parasternal (RP) position. The purpose of this study was to analyze shock efficacy and safety of an RP electrode position. METHODS: Between June 2010 and May 2016, 120 S-ICD® were implanted at our institution...
December 28, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/29278359/incomplete-penetrance-and-variable-expressivity-hallmarks-in-channelopathies-associated-with-sudden-cardiac-death
#11
REVIEW
Monica Coll, Alexandra Pérez-Serra, Jesus Mates, Bernat Del Olmo, Marta Puigmulé, Anna Fernandez-Falgueras, Anna Iglesias, Ferran Picó, Laura Lopez, Ramon Brugada, Oscar Campuzano
Sudden cardiac death is defined as an unexpected decease of cardiac origin. In individuals under 35 years old, most of these deaths are due to familial arrhythmogenic syndromes of genetic origin, also known as channelopathies. These familial cardiac syndromes commonly follow an autosomal dominant pattern of inheritance. Diagnosis, however, can be difficult, mainly due to incomplete penetrance and variable expressivity, which are hallmarks in these syndromes. The clinical manifestation of these diseases can range from asymptomatic to syncope but sudden death can sometimes be the first symptom of disease...
December 26, 2017: Biology
https://www.readbyqxmd.com/read/29249377/history-and-current-difficulties-in-classifying-inherited-myopathies-and-muscular-dystrophies
#12
Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (excluding metabolic disorders, mitochondriopathies, and channelopathies) for which similar proposals would also be relevant. Various genes (encoding structural proteins associated with the sarcolemma, nuclear membrane proteins, and proteins involved in myofiber metabolism have now been sequenced and mutations ascribed to specific forms of inherited muscular disorders...
January 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29248563/exercise-participation-and-shared-decision-making-in-patients-with-inherited-channelopathies-and-cardiomyopathies
#13
Susan P Etheridge, Elizabeth V Saarel, Matthew W Martinez
Sports eligibility and disqualification for patients with cardiac diseases are important considerations for adult and pediatric cardiologists. The 2005 guidelines that addressed this have recently been revised and updated and the new guidelines advocate for a shared decision making approach where the well-informed athlete and family participate in the discussion. In this review, we focus on the benefits of sports participation and review the revised guidelines related to sports participation in patients with channelopathies and cardiomyopathies...
December 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29247493/the-yin-and-yang-of-kv-channels-in-cerebral-small-vessel-pathologies
#14
Masayo Koide, Arash Moshkforoush, Nikolaos M Tsoukias, David C Hill-Eubanks, George C Wellman, Mark T Nelson, Fabrice Dabertrand
Cerebral small vessel diseases (SVDs) encompass a group of genetic and sporadic pathological processes leading to brain lesions, cognitive decline, and stroke. There is no specific treatment for SVDs, which progress silently for years before becoming clinically symptomatic. Here, we examine parallels in the functional defects of parenchymal arterioles in CADASIL, a monogenic form of SVD, and in response to subarachnoid hemorrhage, a common type of hemorrhagic stroke that also targets the brain microvasculature...
December 15, 2017: Microcirculation: the Official Journal of the Microcirculatory Society, Inc
https://www.readbyqxmd.com/read/29247119/applying-high-resolution-variant-classification-to-cardiac-arrhythmogenic-gene-testing-in-a-demographically-diverse-cohort-of-sudden-unexplained-deaths
#15
Ying Lin, Nori Williams, Dawei Wang, William Coetzee, Bo Zhou, Lucy S Eng, Sung Yon Um, Ruijun Bao, Orrin Devinsky, Thomas V McDonald, Barbara A Sampson, Yingying Tang
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demographically diverse sudden unexplained death cohort that underwent thorough investigation in the United States' largest medical examiner's office...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29243794/editorial-channelopathies-a-link-between-brain-and-heart-the-model-of-epilepsy
#16
P Iannetti, G Farello, A Verrotti
No abstract text is available yet for this article.
December 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29233994/voltage-gated-sodium-channels-assemble-and-gate-as-dimers
#17
Jérôme Clatot, Malcolm Hoshi, Xiaoping Wan, Haiyan Liu, Ankur Jain, Krekwit Shinlapawittayatorn, Céline Marionneau, Eckhard Ficker, Taekjip Ha, Isabelle Deschênes
Fast opening and closing of voltage-gated sodium channels are crucial for proper propagation of the action potential through excitable tissues. Unlike potassium channels, sodium channel α-subunits are believed to form functional monomers. Yet, an increasing body of literature shows inconsistency with the traditional idea of a single α-subunit functioning as a monomer. Here we demonstrate that sodium channel α-subunits not only physically interact with each other but they actually assemble, function and gate as a dimer...
December 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/29230996/-research-progress-of-the-correlation-between-caveolin-and-unexpected-sudden-cardiac-death
#18
REVIEW
F Y Wu, L L Gai, X P Kong, B Hao, E W Huang, H Shi, L H Sheng, L Quan, S P Liu, B Luo
Due to the negative autopsy and without cardiac structural abnormalities, unexpected sudden cardiac death (USCD) is always a tough issue for forensic pathological expertise. USCD may be associated with parts of fatal arrhythmic diseases. These arrhythmic diseases may be caused by disorders of cardiac ion channels or channel-related proteins. Caveolin can combine with multiple myocardial ion channel proteins through its scaffolding regions and plays an important role in maintaining the depolarization and repolarization of cardiac action potential...
June 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29221324/the-role-of-sympathectomy-in-long-qt-syndrome
#19
REVIEW
Achilleas Antonopoulos, David Lawrence, Davide Patrini, Marco Scarci, Robert George, Martin Hayward, Sofoklis Mitsos, Nikolaos Panagiotopoulos
Long QT syndrome (LQTS) is an uncommon and potentially fatal cardiac channelopathy. Treatment options can be medical with β-blockers or surgical with implantable cardioverter defibrillator (ICD) implantations and left cardiac sympathetic denervation (LCSD). Purpose of this paper is through a literature review to identify the management algorithm and the role of sympathectomy in LQTS.
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29208948/a-novel-mutation-in-slc1a3-causes-episodic-ataxia
#20
Kazuhiro Iwama, Aya Iwata, Masaaki Shiina, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto
Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c...
December 5, 2017: Journal of Human Genetics
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