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https://www.readbyqxmd.com/read/29456480/novel-homozygous-missense-mutation-in-ryr1-leads-to-severe-congenital-ptosis-ophthalmoplegia-and-scoliosis-in-the-absence-of-myopathy
#1
Nafi Dilaver, Neda Mazaheri, Reza Maroofian, Jawaher Zeighami, Tahere Seifi, Mina Zamani, Alireza Sedaghat, Gholam Reza Shariati, Hamid Galehdari
Ryanodine receptor 1 ( RYR1 ) is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the RYR1 gene cause a range of RYR1 -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in RYR1 ...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29452352/conditional-ablation-and-conditional-rescue-models-for-casq2-elucidate-the-role-of-development-and-of-cell-type-specific-expression-of-casq2-in-the-cpvt2-phenotype
#2
Daniel J Flores, ThuyVy Duong, Luke O Brandenberger, Apratim Mitra, Aditya Shirali, John C Johnson, Danielle Springer, Audrey Noguchi, Zu-Xi Yu, Steven N Ebert, Andreas Ludwig, Bjorn C Knollmann, Mark D Levin, Karl Pfeifer
Cardiac calsequestrin (Casq2) associates with the Ryanodine Receptor 2 channel in the junctional sarcoplasmic reticulum to regulate Ca2+ release into the cytoplasm. Patients carrying mutations in CASQ2 display low resting heart rates under basal conditions and stress-induced polymorphic ventricular tachycardia (CPVT). In this study we generate and characterize novel conditional deletion and conditional rescue mouse models to test the influence of developmental programs on the heart rate and CPVT phenotypes...
February 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29440728/highly-variable-contractile-performance-correlates-with-myocyte-content-in-trabeculae-from-failing-human-hearts
#3
Michelle L Munro, Xin Shen, Marie Ward, Peter N Ruygrok, David J Crossman, Christian Soeller
Heart failure (HF) is defined by compromised contractile function and is associated with changes in excitation-contraction (EC) coupling and cardiomyocyte organisation. Tissue level changes often include fibrosis, while changes within cardiomyocytes often affect structures critical to EC coupling, including the ryanodine receptor (RyR), the associated protein junctophilin-2 (JPH2) and the transverse tubular system architecture. Using a novel approach, we aimed to directly correlate the influence of structural alterations with force development in ventricular trabeculae from failing human hearts...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29439404/high-fat-diet-induced-obesity-produces-spontaneous-ventricular-arrhythmias-and-increases-the-activity-of-ryanodine-receptors-in-mice
#4
Gina Sánchez, Felipe Araneda, Juan Pedro Peña, José Pablo Finkelstein, Jaime A Riquelme, Luis Montecinos, Genaro Barrientos, Paola Llanos, Zully Pedrozo, Matilde Said, Ricardo Bull, Paulina Donoso
Ventricular arrhythmias are a common cause of sudden cardiac death, and their occurrence is higher in obese subjects. Abnormal gating of ryanodine receptors (RyR2), the calcium release channels of the sarcoplasmic reticulum, can produce ventricular arrhythmias. Since obesity promotes oxidative stress and RyR2 are redox-sensitive channels, we investigated whether the RyR2 activity was altered in obese mice. Mice fed a high fat diet (HFD) became obese after eight weeks and exhibited a significant increase in the occurrence of ventricular arrhythmias...
February 10, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29438567/determination-of-the-baseline-susceptibility-of-european-populations-of-cydia-pomonella-lepidoptera-tortricidae-to-chlorantraniliprole-and-the-role-of-cytochrome-p450-monooxygenases
#5
Dolors Bosch, Marcela A Rodríguez, Laura Depalo, Jesús Avilla
The codling moth, Cydia pomonella (L.) (Lepidoptera: Tortricidae), is the key pest on pome fruit and walnut orchards worldwide. Its resistance to available insecticides has been widely reported. Chlorantraniliprole is an anthranilic diamide that was introduced in European countries in 2008-2009 and acts by activating the insect's ryanodine receptors. The aims of this study were to determine the baseline susceptibility of European populations of C. pomonella to chlorantraniliprole, to establish the discriminant concentrations (DC) to check the possible development of resistance, and to know the role of cytochrome P450 monooxygenases (P450) in the possible susceptibility decrease of field populations to the insecticide...
February 9, 2018: Journal of Economic Entomology
https://www.readbyqxmd.com/read/29434162/bradycardia-is-a-specific-phenotype-of-catecholaminergic-polymorphic-ventricular-tachycardia-induced-by-ryr2-mutations
#6
Kazuaki Miyata, Seiko Ohno, Hideki Itoh, Minoru Horie
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited disease characterized by ventricular arrhythmias induced by physical exercise or emotional stress. The major cause of CPVT is mutations in RYR2, which encodes the cardiac ryanodine receptor channel. Recent advances in sequencing technology have yielded incidental findings of RYR2 variants in other cardiac diseases. Analyzing the characteristics of RYR2 variants related to CPVT will be useful for differentiation from those related to other cardiac diseases...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29432144/single-channel-recordings-of-ryr1-at-microsecond-resolution-in-cmos-suspended-membranes
#7
Andreas J W Hartel, Peijie Ong, Indra Schroeder, M Hunter Giese, Siddharth Shekar, Oliver B Clarke, Ran Zalk, Andrew R Marks, Wayne A Hendrickson, Kenneth L Shepard
Single-channel recordings are widely used to explore functional properties of ion channels. Typically, such recordings are performed at bandwidths of less than 10 kHz because of signal-to-noise considerations, limiting the temporal resolution available for studying fast gating dynamics to greater than 100 µs. Here we present experimental methods that directly integrate suspended lipid bilayers with high-bandwidth, low-noise transimpedance amplifiers based on complementary metal-oxide-semiconductor (CMOS) integrated circuits (IC) technology to achieve bandwidths in excess of 500 kHz and microsecond temporal resolution...
February 5, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29427818/mutation-linked-excessively-tight-interaction-between-the-calmodulin-binding-domain-and-c-terminal-domain-of-the-cardiac-ryanodine-receptor-as-a-novel-cause-of-catecholaminergic-polymorphic-ventricular-tachycardia
#8
Shigehiko Nishimura, Takeshi Yamamoto, Yoshihide Nakamura, Michiaki Kohno, Yoriomi Hamada, Yoko Sufu, Go Fukui, Takuma Nanno, Hironori Ishiguchi, Takayoshi Kato, Xiaojuan Xu, Makoto Ono, Tetsuro Oda, Shinichi Okuda, Shigeki Kobayashi, Masafumi Yano
BACKGROUND: Ryanodine receptor (RyR2) is known to be a causal gene of catecholaminergic polymorphic ventricular tachycardia (CPVT) as an important inherited disease. Some of the human CPVT-associated mutations were found in a domain (4026-4172), which has EF hand motifs; so-called calmodulin (CaM)-like domain (CaMLD). OBJECTIVE: To investigate the underlying mechanism by which CPVT is induced with mutation at CaMLD. METHODS: We newly generated N4103K/+ knock-in (KI) mice model...
February 7, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29402414/camkii-mediated-phosphorylation-of-ryr2-plays-a-crucial-role-in-aberrant-ca2-release-as-an-arrhythmogenic-substrate-in-cardiac-troponin-t-related-familial-hypertrophic-cardiomyopathy
#9
Shinichi Okuda, Yoko Sufu-Shimizu, Takayoshi Kato, Masakazu Fukuda, Shigehiko Nishimura, Tetsuro Oda, Shigeki Kobayashi, Takeshi Yamamoto, Sachio Morimoto, Masafumi Yano
AIMS: Cardiac Troponin T (TnT) mutation-linked familial hypertrophic cardiomyopathy (FHC) is known to cause sudden cardiac death at a young age. Here, we investigated the role of the Ca2+ release channel of the cardiac sarcoplasmic reticulum (SR), ryanodine receptor (RyR2), in the pathogenic mechanism of lethal arrhythmia in FHC-related TnT-mutated transgenic mice (TG; TnT-delta160E). METHODS AND RESULTS: In TG cardiomyocytes, the Ca2+ spark frequency (SpF) was much higher than that in non-TG cardiomyocytes...
January 31, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29401443/sarcoplasmic-reticulum-ca2-release-uses-a%C3%A2-cascading-network-of-intra-sr-and-channel-countercurrents
#10
Vilmos Zsolnay, Michael Fill, Dirk Gillespie
In muscle, Ca2+ release from the sarcoplasmic reticulum (SR) into the cytosol is mediated through the ryanodine receptors (RyRs) and sustained by countercurrents that keep the SR membrane potential near 0 mV. Likewise, Ca2+ reuptake by the sarco/endoplasmic reticulum Ca2+ ATPase pump requires countercurrent. Although evidence has suggested that TRIC K+ channels and/or RyR K+ influx provide these countercurrents, the exact sources have not yet been determined. We used an equivalent circuit compartment model of a cardiac SR, the surrounding cytosol, and the dyadic cleft to probe the sources of countercurrent during a complete cardiac cycle...
January 23, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29401432/dynamic-and-irregular-distribution-of-ryr2-clusters-in-the-periphery-of-live-ventricular-myocytes
#11
Florian Hiess, Pascal Detampel, Carme Nolla-Colomer, Alex Vallmitjana, Anutosh Ganguly, Matthias Amrein, Henk E D J Ter Keurs, Raul Benítez, Leif Hove-Madsen, S R Wayne Chen
Cardiac ryanodine receptors (RyR2s) are Ca2+ release channels clustering in the sarcoplasmic reticulum membrane. These clusters are believed to be the elementary units of Ca2+ release. The distribution of these Ca2+ release units plays a critical role in determining the spatio-temporal profile and stability of sarcoplasmic reticulum Ca2+ release. RyR2 clusters located in the interior of cardiomyocytes are arranged in highly ordered arrays. However, little is known about the distribution and function of RyR2 clusters in the periphery of cardiomyocytes...
January 23, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29399547/caffeine-neuroprotective-mechanism-against-%C3%AE-amyloid-neurotoxicity-in-shsy5y-cell-line-involvement-of-adenosine-ryanodine-and-n-methyl-d-aspartate-receptors
#12
Mojtaba Keshavarz, Majid Reza Farrokhi, Atena Amiri
Purpose: Some reports have shown neuroprotective effects of caffeine in several neurodegenerative disorders. However, its mechanism of action is not completely clear. Therefore, the aim of this study was to explore the interference of ryanodine, N-methyl-D-aspartate (NMDA) and adenosine modulators with the neuroprotective effects of caffeine against β-amyloid (Aβ) neurotoxicity in the SHSY5Y cells. Methods: The SHSY5Y cells were treated with Aβ23-35 (20µM) and/or caffeine (0.6 and 1mM), or both for 24 hours...
December 2017: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29383731/ca2-signalling-in-mouse-urethral-smooth-muscle-in-situ-role-of-ca2-stores-and-ca2-influx-mechanisms
#13
Bernard T Drumm, Benjamin E Rembetski, Caroline A Cobine, Salah A Baker, Gerard P Sergeant, Mark A Hollywood, Keith D Thornbury, Kenton M Sanders
Urethral smooth muscle cells (USMC) generate myogenic tone and contribute to urinary continence. Currently, little is known about Ca2+ signalling in USMC in situ, and therefore little is known about the source(s) of Ca2+ required for excitation-contraction coupling. We characterized Ca2+ signalling in USMC within intact urethral muscles using a genetically encoded Ca2+ sensor, GCaMP3, expressed selectively in USMC. USMC fired spontaneous intracellular Ca2+ waves that did not propagate cell-to-cell across muscle bundles...
January 31, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29377447/baseline-susceptibility-of-mediterranean-strains-of-trialeurodes-vaporariorum-westwood-to-cyantraniliprole
#14
Inmaculada Moreno, Ana Belando, Carolina Grávalos, Pablo Bielza
BACKGROUND: Cyantraniliprole is a novel anthranilic diamide insecticide that acts on a broad-spectrum of insect pest, exclusively by activating their ryanodine receptors. Cyantraniliprole is very effective against whitefly and it presents a favorable ecotoxicological profile. In this study, the baseline susceptibility to cyantraniliprole of Trialeurodes vaporariorum populations from Mediterranen area was stablished making nymphal systemic uptake bioassays. RESULTS: Bioassays data showed that the susceptibility to cyantraniliprole varied among the strains collected across the Mediterranean basin...
January 27, 2018: Pest Management Science
https://www.readbyqxmd.com/read/29377162/serological-and-experimental-studies-in-different-forms-of-myasthenia-gravis
#15
REVIEW
Angela Vincent, Saif Huda, Michelangelo Cao, Hakan Cetin, Inga Koneczny, Pedro Rodriguez-Cruz, Leslie Jacobson, Stuart Viegas, Saiju Jacob, Mark Woodhall, Akiko Nagaishi, Angelina Maniaol, Valentina Damato, M Isabel Leite, Judith Cossins, Richard Webster, Jacqueline Palace, David Beeson
Antibodies to the acetylcholine receptor (AChR) have been recognized for over 40 years and have been important in the diagnosis of myasthenia gravis (MG), and its recognition in patients of different ages and thymic pathologies. The 10-20% of patients who do not have AChR antibodies are now known to comprise different subgroups, the most commonly reported of which is patients with antibodies to muscle-specific kinase (MuSK). The use of cell-based assays has extended the repertoire of antibody tests to clustered AChRs, low-density lipoprotein receptor-related protein 4, and agrin...
January 29, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29368397/l-arginine-ingestion-inhibits-eccentric-contraction-induced-proteolysis-and-force-deficit-via-s-nitrosylation-of-calpain
#16
Keita Kanzaki, Daiki Watanabe, Chihiro Aibara, Yuki Kawakami, Takashi Yamada, Yoshitaka Takahashi, Masanobu Wada
It has been shown that calpains are involved in the proteolysis of muscle proteins that occurs with eccentric contraction (ECC) and that exogenously applied nitric oxide decreases the calpain-mediated proteolysis. The aim of this study was to examine the effects of ingestion of l-arginine (ARG), a nitric oxide precursor, on ECC-related calpain activation. In the first and second experiments, male Wistar rats were given ARG in water for 7 days starting from 3 days before the ECC protocol (average ingestion, ~600 mg kg-body wt-1  day-1 )...
January 2018: Physiological Reports
https://www.readbyqxmd.com/read/29357673/calcium-release-mediated-by-redox-sensitive-ryr2-channels-has-a-central-role-in-hippocampal-structural-plasticity-and-spatial-memory
#17
Jamileth More, Barbara Bruna, Pedro Lobos, José Luis Galaz, Paula Figueroa, Silvia Namias, Gina Sanchez, Genaro Barrientos, José Luis Valdes, Andrea C Paula-Lima, Cecilia Hidalgo, Tatiana Adasme
Previous studies indicate that hippocampal synaptic plasticity and spatial memory processes entail calcium release from intracellular stores mediated by ryanodine receptor (RyR) channels. In particular, RyR-mediated Ca2+ release is central for the dendritic spine remodeling induced by Brain-Derived Neurotrophic Factor (BDNF), a neurotrophin that stimulates complex signaling pathways leading to memory-associated protein synthesis and structural plasticity. AIMS: To examine if up-regulation of type-2 RyR (RyR2) channels and the spine remodeling induced by BDNF entail reactive oxygen species (ROS) generation, and to test if RyR2 down-regulation affects BDNF-induced spine remodeling and spatial memory...
January 22, 2018: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29355282/malignant-hyperthermia-and-ryanodine-receptor-type-1-gene-ryr1-mutation-in-a-family-in-singapore
#18
Daphne Wy Li, Poh San Lai, Delice W Lee, Rita Yy Yong, Tat Leang Lee
INTRODUCTION: Sporadic clinical episodes of malignant hyperthermia (MH) that develop during general anaesthesia (GA) have been reported in Singapore. However, there is no published local report of a confirmed case of MH susceptibility (MHS) by skeletal muscle contracture tests and/or molecular tests. MATERIALS AND METHODS: We report 2 patients from an extended family who developed signs of clinical MH while under GA. The MH episodes were successfully treated with intravenous dantrolene sodium...
December 2017: Annals of the Academy of Medicine, Singapore
https://www.readbyqxmd.com/read/29354781/suppression-of-arrhythmia-by-enhancing-mitochondrial-ca2-uptake-in-catecholaminergic-ventricular-tachycardia-models
#19
Maria K Schweitzer, Fabiola Wilting, Simon Sedej, Lisa Dreizehnter, Nathan J Dupper, Qinghai Tian, Alessandra Moretti, Ilaria My, Ohyun Kwon, Silvia G Priori, Karl-Ludwig Laugwitz, Ursula Storch, Peter Lipp, Andreas Breit, Michael Mederos Y Schnitzler, Thomas Gudermann, Johann Schredelseker
Cardiovascular disease-related deaths frequently arise from arrhythmias, but treatment options are limited due to perilous side effects of commonly used antiarrhythmic drugs. Cardiac rhythmicity strongly depends on cardiomyocyte Ca2+ handling and prevalent cardiac diseases are causally associated with perturbations in intracellular Ca2+ handling. Therefore, intracellular Ca2+ transporters are lead candidate structures for novel and safer antiarrhythmic therapies. Mitochondria and mitochondrial Ca2+ transport proteins are important regulators of cardiac Ca2+ handling...
December 2017: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/29352041/stress-signaling-jnk2-crosstalk-with-camkii-underlies-enhanced-atrial-arrhythmogenesis
#20
Jiajie Yan, Weiwei Zhao, Justin K Thomson, Xianlong Gao, Dominic M DeMarco, Elena Carrillo, Biyi Chen, Xiaomin Wu, Kenneth S Ginsburg, Mamdouh Bakhos, Donald M Bers, Mark E Anderson, Long-Sheng Song, Michael Fill, Xun Ai
Rationale: Atrial fibrillation (AF) is the most common arrhythmia and advanced age is an inevitable and predominant AF risk factor. However, the mechanisms that couple aging and AF propensity remain unclear, making targeted therapeutic interventions unattainable. Objective: To explore the functional role of an important stress-response c-Jun N-terminal kinase (JNK) in sarcoplasmic reticulum (SR) Ca2+ handling and consequently Ca2+-mediated atrial arrhythmias. Methods and Results: We employed a series of cutting-edge electrophysiological and molecular techniques, exploited the power of transgenic mouse models to detail the molecular mechanism, and verified its clinical applicability in parallel studies on donor human hearts...
January 19, 2018: Circulation Research
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