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https://www.readbyqxmd.com/read/28902675/malignant-hyperthermia-in-the-post-genomics-era-new-perspectives-on-an-old-concept
#1
Sheila Riazi, Natalia Kraeva, Philip M Hopkins
This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.
September 12, 2017: Anesthesiology
https://www.readbyqxmd.com/read/28899787/differential-expression-of-ryanodine-receptor-isoforms-after-spinal-cord-injury
#2
Nicolas Pelisch, Cynthia Gomes, Jacqueline M Nally, Jeffrey C Petruska, David P Stirling
Ryanodine receptors (RyRs) are highly conductive intracellular Ca(2+) release channels and are widely expressed in many tissues, including the central nervous system. RyRs have been implicated in intracellular Ca(2+) overload which can drive secondary damage following traumatic injury to the spinal cord (SCI), but the spatiotemporal expression of the three isoforms of RyRs (RyR1-3) after SCI remains unknown. Here, we analyzed the gene and protein expression of RyR isoforms in the murine lumbar dorsal root ganglion (DRG) and the spinal cord lesion site at 1, 2 and 7 d after a mild contusion SCI...
September 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#3
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
May 30, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28807150/two-ef-hand-motifs-in-ryanodine-receptor-calcium-release-channels-contribute-to-isoform-specific-regulation-by-calmodulin
#4
Le Xu, Angela C Gomez, Daniel A Pasek, Gerhard Meissner, Naohiro Yamaguchi
The mammalian ryanodine receptor Ca(2+) release channel (RyR) has a single conserved high affinity calmodulin (CaM) binding domain. However, the skeletal muscle RyR1 is activated and cardiac muscle RyR2 is inhibited by CaM at submicromolar Ca(2+). This suggests isoform-specific domains are involved in RyR regulation by CaM. To gain insight into the differential regulation of cardiac and skeletal muscle RyRs by CaM, RyR1/RyR2 chimeras and mutants were expressed in HEK293 cells, and their single channel activities were measured using a lipid bilayer method...
September 2017: Cell Calcium
https://www.readbyqxmd.com/read/28779836/lipid-nanodiscs-as-a-tool-for-high-resolution-structure-determination-of-membrane-proteins-by-single-particle-cryo-em
#5
Rouslan G Efremov, Christos Gatsogiannis, Stefan Raunser
The "resolution revolution" in electron cryomicroscopy (cryo-EM) profoundly changed structural biology of membrane proteins. Near-atomic structures of medium size to large membrane protein complexes can now be determined without crystallization. This significantly accelerates structure determination and also the visualization of small bound ligands. There is an additional advantage: the structure of membrane proteins can now be studied in their native or nearly native lipid bilayer environment. A popular lipid bilayer mimetic are lipid nanodiscs, which have been thoroughly characterized and successfully utilized in multiple applications...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28750945/high-prevalence-of-rare-ryanodine-receptor-type-1-variants-in-patients-suffering-from-aneurysmatic-subarachnoid-hemorrhage-a-pilot-study
#6
Jan Coburger, Thomas Kapapa, Cristian Rainer Wirtz, Karin Jurkat-Rott, Werner Klingler
Subarachnoid hemorrhage (SAH) remains a challenging neurosurgical disease. The ryanodine receptor type 1 Ca2+ channel (RyR1) plays a crucial role in vasoconstriction and hemostasis. Mutations of the encoding gene, RYR1, are known to cause susceptibility to malignant hyperthermia (MH). Recently, a RYR1 mutation was found to be associated with abnormal bleeding times. Therefore, an assessment of the RYR1 gene might be of high relevance in patients with aneurysmatic SAH. In the presented pilot study, we screened 10 patients suffering from SAH for RYR1 variants and, for the first time in SAH, performed an assessment of pathogenicity of these variants using protein prediction software...
July 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#7
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28728367/comparative-analysis-on-genome-wide-dna-methylation-in-longissimus-dorsi-muscle-between-small-tailed-han-and-dorper-%C3%A3-small-tailed-han-crossbred-sheep
#8
Yang Cao, Hai-Guo Jin, Hui-Hai Ma, Zhihui Zhao
Objective: The objective of this study was to compare the DNA methylation profile in the longissimus dorsi muscle (LDM) between Small Tailed Han and Dorper × Small Tailed Han crossbred sheep which were known to exhibit significant difference in meat-production. Methods: Six samples were subjected to MeDIP-seq and subsequent bioinformatics analyses to detect differentially methylated regions (DMRs) between the two groups. Results: 23.08 Gb clean data from six samples were generated and 808 DMRs were identified in gene body or their neighboring up/downstream regions...
June 27, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28728119/nf-%C3%AE%C2%BAb-mediated-inflammation-correlates-with-calcium-overload-under-arsenic-trioxide-induced-myocardial-damage-in-gallus-gallus
#9
Siwen Li, Yu Wang, Hongjing Zhao, Ying He, Jinglun Li, Guangshun Jiang, Mingwei Xing
Arsenic is a known environmental pollutant and highly hazardous toxin to human health. Due to the biological accumulation, arsenic produces a variety of cardiovascular diseases. However, the exact mechanism is still unclear. Here, our objective was to evaluate myocardial damage and determine the potential mechanism under arsenic exposure in chickens. Arsenic trioxide (As2O3) (1.25 mg/kg BW, corresponding 15 mg/kg feed) was administered as basal diet to male Hy-line chickens (one-day-old) for 4, 8 and 12 weeks...
October 2017: Chemosphere
https://www.readbyqxmd.com/read/28716970/prolonged-force-depression-after-mechanically-demanding-contractions-is-largely-independent-of-ca-2-and-reactive-oxygen-species
#10
Sigitas Kamandulis, Felipe de Souza Leite, Andres Hernández, Abram Katz, Marius Brazaitis, Joseph D Bruton, Tomas Venckunas, Nerijus Masiulis, Dalia Mickeviciene, Nerijus Eimantas, Andrejus Subocius, Dilson E Rassier, Albertas Skurvydas, Niklas Ivarsson, Håkan Westerblad
Increased production of reactive oxygen/nitrogen species (ROS) and impaired cellular Ca(2+) handling are implicated in the prolonged low-frequency force depression (PLFFD) observed in skeletal muscle after both metabolically and mechanically demanding exercise. Metabolically demanding high-intensity exercise can induce PLFFD accompanied by ROS-dependent fragmentation of the sarcoplasmic reticulum Ca(2+) release channels, the ryanodine receptor (RyR)-1. We tested whether similar changes occur after mechanically demanding eccentric contractions...
July 17, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28687594/reduced-threshold-for-store-overload-induced-ca-2-release-is-a-common-defect-of-ryr1-mutations-associated-with-malignant-hyperthermia-and-central-core-disease
#11
COMPARATIVE STUDY
Wenqian Chen, Andrea Koop, Yingjie Liu, Wenting Guo, Jinhong Wei, Ruiwu Wang, David H MacLennan, Robert T Dirksen, Sui Rong Wayne Chen
Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most disease-associated RyR1 and RyR2 mutations are located in the N-terminal, central, and C-terminal regions of the corresponding ryanodine receptor (RyR) isoform. An increasing body of evidence demonstrates that CPVT-associated RyR2 mutations enhance the propensity for spontaneous Ca(2+) release during store Ca(2+) overload, a process known as store overload-induced Ca(2+) release (SOICR)...
August 7, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28653141/physiology-and-pathophysiology-of-excitation-contraction-coupling-the-functional-role-of-ryanodine-receptor
#12
Gaetano Santulli, Daniel R Lewis, Andrew R Marks
Calcium (Ca(2+)) release from intracellular stores plays a key role in the regulation of skeletal muscle contraction. The type 1 ryanodine receptors (RyR1) is the major Ca(2+) release channel on the sarcoplasmic reticulum (SR) of myocytes in skeletal muscle and is required for excitation-contraction (E-C) coupling. This article explores the role of RyR1 in skeletal muscle physiology and pathophysiology.
June 26, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28641477/application-of-whole-genome-sequencing-technology-in-the-investigation-of-genetic-causes-of-fetal-perinatal-and-early-infant-death
#13
Jane E Armes, Mark Williams, Gareth Price, Tristan Wallis, Renee Gallagher, Admire Matsika, Christopher Joy, Melanie Galea, Glenn Gardener, Rick Leach, Sigrid Ma Swagemakers, Rick Tearle, Andrew Stubbs, James Harraway, Peter J van der Spek, Deon J Venter
Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28584051/ion-pulling-simulations-provide-insights-into-the-mechanisms-of-channel-opening-of-the-skeletal-muscle-ryanodine-receptor
#14
David D Mowrey, Le Xu, Yingwu Mei, Daniel A Pasek, Gerhard Meissner, Nikolay V Dokholyan
The type 1 ryanodine receptor (RyR1) mediates Ca(2+) release from the sarcoplasmic reticulum to initiate skeletal muscle contraction and is associated with muscle diseases, malignant hyperthermia, and central core disease. To better understand RyR1 channel function, we investigated the molecular mechanisms of channel gating and ion permeation. An adequate model of channel gating requires accurate, high-resolution models of both open and closed states of the channel. To this end, we generated an open-channel RyR1 model using molecular simulations to pull Ca(2+) through the pore constriction site of a closed-channel RyR1 structure determined at 3...
August 4, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28568606/coupling-of-excitation-to-ca-2-release-is-modulated-by-dysferlin
#15
Valeriy Lukyanenko, Joaquin M Muriel, Robert J Bloch
KEY POINTS: Dysferlin, the protein missing in limb girdle muscular dystrophy 2B and Miyoshi myopathy, concentrates in transverse tubules of skeletal muscle, where it stabilizes voltage-induced Ca(2+) transients against loss after osmotic shock injury (OSI). Local expression of dysferlin in dysferlin-null myofibres increases transient amplitude to control levels and protects them from loss after OSI. Inhibitors of ryanodine receptors (RyR1) and L-type Ca(2+) channels protect voltage-induced Ca(2+) transients from loss; thus both proteins play a role in injury in dysferlin's absence...
August 1, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28547000/whole-exome-sequencing-of-a-patient-with-suspected-mitochondrial-myopathy-reveals-novel-compound-heterozygous-variants-in-ryr1
#16
Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, Jessica L Jackson, Sarah Macklin, Margot A Cousin, Nicole J Boczek, Eric W Klee, Elliot L Dimberg, Kathleen D Kennelly, Paldeep S Atwal
BACKGROUND: Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28543167/a-novel-homozygous-splice-site-mutation-in-ryr1-causes-fetal-hydrops-and-affects-skeletal-and-smooth-muscle-development
#17
Nicole Meier, Elisabeth Bruder, Isabel Filges
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28538150/lanthanides-report-calcium-sensor-in-the-vestibule-of-ryanodine-receptor
#18
Sándor Sárközi, István Komáromi, István Jóna, János Almássy
Ca(2+) regulates ryanodine receptor's (RyR) activity through an activating and an inhibiting Ca(2+)-binding site located on the cytoplasmic side of the RyR channel. Their altered sensitivity plays an important role in the pathology of malignant hyperthermia and heart failure. We used lanthanide ions (Ln(3+)) as probes to investigate the Ca(2+) sensors of RyR, because they specifically bind to Ca(2+)-binding proteins and they are impermeable to the channel. Eu(3+)'s and Sm(3+)'s action was tested on single RyR1 channels reconstituted into planar lipid bilayers...
May 23, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28536302/a-cryo-em-based-model-of-phosphorylation-and-fkbp12-6-mediated-allosterism-of-the-cardiac-ryanodine-receptor
#19
Sonali Dhindwal, Joshua Lobo, Vanessa Cabra, Demetrio J Santiago, Ashok R Nayak, Kelly Dryden, Montserrat Samsó
Type 2 ryanodine receptors (RyR2s) are calcium channels that play a vital role in triggering cardiac muscle contraction by releasing calcium from the sarcoplasmic reticulum into the cytoplasm. Several cardiomyopathies are associated with the abnormal functioning of RyR2. We determined the three-dimensional structure of rabbit RyR2 in complex with the regulatory protein FKBP12.6 in the closed state at 11.8 Å resolution using cryo-electron microscopy and built an atomic model of RyR2. The heterogeneity in the data set revealed two RyR2 conformations that we proposed to be related to the extent of phosphorylation of the P2 domain...
May 23, 2017: Science Signaling
https://www.readbyqxmd.com/read/28527222/functional-characterization-of-c-terminal-ryanodine-receptor-1-variants-associated-with-central-core-disease-or-malignant-hyperthermia
#20
Remai Parker, Anja H Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, Kathryn M Stowell
BACKGROUND: Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function. For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignant hyperthermia or central core disease...
2017: Journal of Neuromuscular Diseases
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