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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
#1
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/29331791/magnesium-sulfate-reduces-formalin-induced-orofacial-pain-in-rats-with-normal-magnesium-serum-levels
#2
Dragana P Srebro, Sonja M Vučković, Ivan S Dožić, Branko S Dožić, Katarina R Savić Vujović, Aleksandar P Milovanović, Branislav V Karadžić, Milica Š Prostran
BACKGROUND: In humans, orofacial pain has a high prevalence and is often difficult to treat. Magnesium is an essential element in biological a system which controls the activity of many ion channels, neurotransmitters and enzymes. Magnesium produces an antinociceptive effect in neuropathic pain, while in inflammatory pain results are not consistent. We examined the effects of magnesium sulfate using the rat orofacial formalin test, a model of trigeminal pain. METHODS: Male Wistar rats were injected with 1...
August 31, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29331020/human-phenotypes-caused-by-piezo1-mutations-one-gene-two-overlapping-phenotypes
#3
Silvia Martin-Almedina, Sahar Mansour, Pia Ostergaard
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action, the mutations identified in GLDF patients cause a loss-of-function mechanism of disease and mutations in DHS patients cause gain-of-function...
January 13, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29330185/the-mgte-homolog-fici-acts-as-a-secondary-ferrous-iron-importer-in-shewanella-oneidensis-strain-mr-1
#4
Brittany D Bennett, Kaitlyn E Redford, Jeffrey A Gralnick
The transport of metals into and out of cells is necessary for the maintenance of appropriate intracellular concentrations. Metals are needed for incorporation into metalloproteins but become toxic at higher concentrations. Many metal transport proteins have been discovered in bacteria, including the Mg2+ transporter-E (MgtE) family of passive Mg2+/Co2+ cation-selective channels. Low sequence identity exists between members of the MgtE family, indicating that substrate specificity may differ among MgtE transporters...
January 12, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29330128/exploiting-ion-channel-structure-to-assess-rare-variant-pathogenicity
#5
Brett M Kroncke, Tao Yang, Prince Kannankeril, M Benjamin Shoemaker, Dan M Roden
BACKGROUND: A 27-year-old female was seen for long QT syndrome. She was found to be a carrier of two variants, KCNQ1 Val162Met and KCNH2 Ser55Leu, and both were annotated as pathogenic by a diagnostic laboratory in part because of sequence proximity to other known pathogenic variants. OBJECTIVE: To assess the relationship between both the KCNQ1 and KCNH2 variants and clinical significance using protein structure, in vitro functional assays, and familial segregation...
January 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29330067/protein-complexes-as-psychiatric-and-neurological-drug-targets
#6
REVIEW
Akihiko S Kato, Jeffrey M Witkin
The need for improved medications for psychiatric and neurological disorders is clear. Difficulties in finding such drugs demands that all strategic means be utilized for their invention. The discovery of forebrain specific AMPA receptor antagonists, which selectively block the specific combinations of principal and auxiliary subunits present in forebrain regions but spare targets in the cerebellum, was recently disclosed. This discovery raised the possibility that other auxiliary protein systems could be utilized to help identify new medicines...
January 9, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29327607/up-regulation-of-cav3-1-expression-in-sh-sy5y-cells-induced-by-lidocaine-hydrochloride
#7
Qin Gong, Xianjie Wen, Heng Li, Jian He, Yunhua Wang, Huiping Wu, Hanbing Wang, Xiaoping Wang
BACKGROUND: Neurotoxicity induced by the local anaesthetics has aroused concern. A previous study has shown that an overload of intracellular calcium was involved in the neurotoxic effect. Cav3.1 is one of the low-voltage-activated (LVA) calcium channels which play a key point to regulate the intracellular calcium ion level. This study aimed to investigate the changes of the Cav3.1 expression in the SH-SY5Y cells treated with lidocaine hydrochloride. METHODS: The SH-SY5Y cells were treated with different concentrations of lidocaine hydrochloride(1 mM, 5 mM and 10 mM, namely L1 group, L5 group and L10 group) and different exposure times (1 h,12 h and 24 h), respectively...
January 12, 2018: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29327588/directing-oxygen-vacancy-channels-in-srfeo2-5-epitaxial-thin-films
#8
Amit Khare, Jaekwang Lee, Jaeseoung Park, Gi-Yeop Kim, Si-Young Choi, Takayoshi Katase, Seulki Roh, Tae Sup Yoo, Jungseek Hwang, Hiromichi Ohta, Junwoo Son, Woo Seok Choi
Transition metal oxides with brownmillerite (BM) structures possess one-dimensional oxygen vacancy channels, which play a key role in realizing high ionic conduction at low temperatures. The controllability of the vacancy channel orientation, thus, possess a great potential for practical applications, and would provide a better visualization of the diffusion pathways of ions in transition metal oxides. In this study, the orientations of the oxygen vacancy channels in BM-SrFeO2.5 are stabilized along two crystallographic directions of the epitaxial thin films...
January 12, 2018: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29327206/brain-photobiomodulation-therapy-a-narrative-review
#9
REVIEW
Farzad Salehpour, Javad Mahmoudi, Farzin Kamari, Saeed Sadigh-Eteghad, Seyed Hossein Rasta, Michael R Hamblin
Brain photobiomodulation (PBM) therapy using red to near-infrared (NIR) light is an innovative treatment for a wide range of neurological and psychological conditions. Red/NIR light is able to stimulate complex IV of the mitochondrial respiratory chain (cytochrome c oxidase) and increase ATP synthesis. Moreover, light absorption by ion channels results in release of Ca2+ and leads to activation of transcription factors and gene expression. Brain PBM therapy enhances the metabolic capacity of neurons and stimulates anti-inflammatory, anti-apoptotic, and antioxidant responses, as well as neurogenesis and synaptogenesis...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29327205/nociceptive-roles-of-trpm2-ion-channel-in-pathologic-pain
#10
REVIEW
Yongwoo Jang, Pyung Sun Cho, Young Duk Yang, Sun Wook Hwang
Pain is a protective mechanism that enables us to avoid potentially harmful environments. However, when pathologically persisted and aggravated under severely injured or inflamed conditions, pain often reduces the quality of life and thus is considered as a disease to eliminate. Inflammatory and/or neuropathic mechanisms may exaggerate interactions between damaged tissues and neural pathways for pain mediation. Similar mechanisms also promote the communication among cellular participants in synapses at spinal or higher levels, which may amplify nociceptive firing and subsequent signal transmission, deteriorating the pain sensation...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29327161/effects-of-channel-blocking-on-information-transmission-and-energy-efficiency-in-squid-giant-axons
#11
Yujiang Liu, Yuan Yue, Yuguo Yu, Liwei Liu, Lianchun Yu
Action potentials are the information carriers of neural systems. The generation of action potentials involves the cooperative opening and closing of sodium and potassium channels. This process is metabolically expensive because the ions flowing through open channels need to be restored to maintain concentration gradients of these ions. Toxins like tetraethylammonium can block working ion channels, thus affecting the function and energy cost of neurons. In this paper, by computer simulation of the Hodgkin-Huxley neuron model, we studied the effects of channel blocking with toxins on the information transmission and energy efficiency in squid giant axons...
January 11, 2018: Journal of Computational Neuroscience
https://www.readbyqxmd.com/read/29326832/at-the-atrioventricular-crossroads-dual-pathway-electrophysiology-in-the-atrioventricular-node-and-its-underlying-heterogeneities
#12
Sharon A George, N Rokhaya Faye, Alejandro Murillo-Berlioz, K Benjamin Lee, Gregory D Trachiotis, Igor R Efimov
The atrioventricular node (AVN) is a complex structure that performs a variety of functions in the heart. The AVN is primarily an electrical gatekeeper between the atria and ventricles and introduces a delay between atrial and ventricular excitation, allowing for efficient ventricular filling. The AVN is composed of several compartments that safely transmit electrical excitation from the atria to the ventricles via the fast or slow pathways. There are many electrophysiological differences between these pathways, including conduction time and electrical refractoriness, that increase the predisposition of the atrioventricular junction to arrhythmias such as atrioventricular nodal re-entrant tachycardia...
December 2017: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/29326133/lipid-signaling-to-membrane-proteins-from-second-messengers-to-membrane-domains-and-adapter-free-endocytosis
#13
REVIEW
Donald W Hilgemann, Gucan Dai, Anthony Collins, Vincenzo Lariccia, Simona Magi, Christine Deisl, Michael Fine
Lipids influence powerfully the function of ion channels and transporters in two well-documented ways. A few lipids act as bona fide second messengers by binding to specific sites that control channel and transporter gating. Other lipids act nonspecifically by modifying the physical environment of channels and transporters, in particular the protein-membrane interface. In this short review, we first consider lipid signaling from this traditional viewpoint, highlighting innumerable Journal of General Physiology publications that have contributed to our present understanding...
January 11, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29325930/integrated-study-on-comparative-transcriptome-and-skeletal-muscle-function-in-aged-rats
#14
Jing Zhou, Zhiyin Liao, Jinliang Chen, Kexiang Zhao, Qian Xiao
The present study aimed to reveal aging-related changes in the skeletal muscle of SD rats by comparing transcriptome analysis, integrated with muscle physiological parameters. Ten rats aged 25 months were set as the old group (OG) and ten rats aged 6 months were set as the young group (YG). After 6 weeks of feeding, the body mass, grip strength, and gastrocnemius muscle mass were determined, and the differentially expressed genes were analyzed by transcriptome sequencing, followed by GO enrichment analysis and KEGG analysis...
January 8, 2018: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/29324422/assimilation-of-biophysical-neuronal-dynamics-in-neuromorphic-vlsi
#15
Jun Wang, Daniel Breen, Abraham Akinin, Frederic Broccard, Henry D I Abarbanel, Gert Cauwenberghs
Representing the biophysics of neuronal dynamics and behavior offers a principled analysis-by-synthesis approach toward understanding mechanisms of nervous system functions. We report on a set of procedures assimilating and emulating neurobiological data on a neuromorphic very large scale integrated (VLSI) circuit. The analog VLSI chip, NeuroDyn, features 384 digitally programmable parameters specifying for 4 generalized Hodgkin-Huxley neurons coupled through 12 conductance-based chemical synapses. The parameters also describe reversal potentials, maximal conductances, and spline regressed kinetic functions for ion channel gating variables...
December 2017: IEEE Transactions on Biomedical Circuits and Systems
https://www.readbyqxmd.com/read/29323914/path-to-the-desensitized-state-of-ligand-gated-ion-channels-why-are-inhibitory-and-excitatory-receptors-different
#16
Robert S Cantor
The family of pentameric ligand-gated ion channels (pLGICs) includes both inhibitory and excitatory receptors. Electrophysiological methods have explored the time-dependent ion currents induced by their neurotransmitter agonists. Kinetic modeling requires a minimum of three conformational states: resting, active, and desensitized. However, current traces of inhibitory and excitatory pLGICs differ substantially. Reproducing their basic features requires different state connectivity: whether the desensitized state is accessed from the resting or active state...
January 11, 2018: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29323910/direct-synthesis-of-prussian-blue-nanoparticles-in-liposomes-incorporating-natural-ion-channels-for-cs-adsorption-and-particle-size-control
#17
Tomomi Koshiyama, Motoki Tanaka, Masayuki Honjo, Yumi Fukunaga, Tomoya Okamura, Masaaki Ohba
Coordination polymer (CP) nanoparticles (NPs) formed by a self-assembly of organic ligands and metal ions are one of the attractive materials for molecular capture and deliver/release in aqueous media. Control of particle size and prevention of aggregation among CP NPs are important factors for improving their adsorption capability in water. We demonstrate here the potential of a liposome incorporating an antibiotic ion channel as a vessel for synthesizing Prussian blue (PB) NPs, being a typical CP. In the formation of PB NPs within liposomes, the influx rate of Fe2+ ions into liposome encapsulated [Fe(CN)6]3- through channels was fundamental for the change of NPs' sizes...
January 11, 2018: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/29323236/molecular-determinants-of-ca2-sensitivity-at-the-intersubunit-interface-of-the-bk-channel-gating-ring
#18
Qin Li, Yingxin Li, Hua Wei, Hao-Min Pan, Alexandre G Vouga, Brad S Rothberg, Yunkun Wu, Jiusheng Yan
The large-conductance calcium-activated K+ (BK) channel contains two intracellular tandem Ca2+-sensing RCK domains (RCK1 and RCK2), which tetramerize into a Ca2+ gating ring that regulates channel opening by conformational expansion in response to Ca2+ binding. Interestingly, the gating ring's intersubunit assembly interface harbors the RCK2 Ca2+-binding site, known as the Ca2+ bowl. The gating ring's assembly interface is made in part by intersubunit coordination of a Ca2+ ion between the Ca2+ bowl and an RCK1 Asn residue, N449, and by apparent intersubunit electrostatic interactions between E955 in RCK2 and R786 and R790 in the RCK2 of the adjacent subunit...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29323217/node-of-ranvier-as-an-array-of-bio-nanoantennas-for-infrared-communication-in-nerve-tissue
#19
Andrea Zangari, Davide Micheli, Roberta Galeazzi, Antonio Tozzi
Electromagnetic radiation, in the visible and infrared spectrum, is increasingly being investigated for its possible role in the most evolved brain capabilities. Beside experimental evidence of electromagnetic cellular interactions, the possibility of light propagation in the axon has been recently demonstrated using computational modelling, although an explanation of its source is still not completely understood. We studied electromagnetic radiation onset and propagation at optical frequencies in myelinated axons, under the assumption that ion channel currents in the node of Ranvier behave like an array of nanoantennas emitting in the wavelength range from 300 to 2500 nm...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29323118/effects-of-crystallographic-and-geometric-orientation-on-ion-beam-sputtering-of-gold-nanorods
#20
J A Hinks, F Hibberd, K Hattar, A Ilinov, D C Bufford, F Djurabekova, G Greaves, A Kuronen, S E Donnelly, K Nordlund
Nanostructures may be exposed to irradiation during their manufacture, their engineering and whilst in-service. The consequences of such bombardment can be vastly different from those seen in the bulk. In this paper, we combine transmission electron microscopy with in situ ion irradiation with complementary computer modelling techniques to explore the physics governing the effects of 1.7 MeV Au ions on gold nanorods. Phenomena surrounding the sputtering and associated morphological changes caused by the ion irradiation have been explored...
January 11, 2018: Scientific Reports
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