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https://www.readbyqxmd.com/read/28326467/malignant-hyperthermia-susceptibility-in-patients-with-exertional-rhabdomyolysis-a-retrospective-cohort-study-and-updated-systematic-review
#1
Natalia Kraeva, Alexander Sapa, James J Dowling, Sheila Riazi
INTRODUCTION: Two potentially fatal syndromes, malignant hyperthermia (MH), an adverse reaction to general anesthesia, and exertional rhabdomyolysis (ER) share some clinical features, including hyperthermia, muscle rigidity, tachycardia, and elevated serum creatine kinase. Some patients with ER have experienced an MH event and/or have been diagnosed as MH susceptible (MHS). In order to assess the relationship between ER and MH further, we conducted a retrospective cohort study summarizing clinical and genetic information on Canadian patients with ER who were diagnosed as MHS...
March 21, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28303574/functional-impact-of-an-oculopharyngeal-muscular-dystrophy-mutation-in-pabpn1
#2
Maricela García-Castañeda, Ana Victoria Vega, Rocío Rodríguez, Maria Guadalupe Montiel-Jaen, Bulmaro Cisneros, Angel Zarain-Herzberg, Guillermo Avila
Oculopharyngeal muscular dystrophy (OPMD) is linked to mutations in the gene encoding poly(A)-binding protein nuclear 1 (PABPN1). OPMD mutations consist in an expansion of a tract that contains 10 alanines (to 12-17). The disease courses with muscle weakness that begins in adulthood, but the underlying mechanism is unclear. Here we investigated functional effects of PABPN1 and an OPMD mutation (PABPN1-17A), using myotubes transfected with cDNAs encoding these proteins (GFP-tagged). PABPN1 stimulated myoblast fusion (100%), but PABPN1-17A failed to mimic this effect...
March 16, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28290972/malignant-hyperthermia-susceptibility-and-fitness-for-duty
#3
Michael A Lee, Erin B McGlinch, Maria C McGlinch, John F Capacchione
INTRODUCTION: Malignant hyperthermia (MH) is an inherited hypermetabolic condition characterized by uncontrolled calcium release from the sarcoplasmic reticulum of skeletal muscle, usually from exposure to inhaled general anesthetics and/or the depolarizing neuromuscular blocking agent succinylcholine. Multiple case reports now reveal that crises may be precipitated by environmental factors such as exercise or high ambient temperatures. Common signs of an MH crisis include life-threatening hyperthermia, metabolic acidosis, muscle rigidity, and tachycardia...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28289592/associations-of-biochemical-changes-and-maternal-traits-with-mutation-1843-c-t-in-the-ryr1-gene-as-a-common-cause-for-porcine-stress-syndrome
#4
Z T Popovski, B Tanaskovska, E Miskoska-Milevska, S Andonov, S Domazetovska
Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS)...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28269792/ryr1-related-myopathies-clinical-histopathologic-and-genetic-heterogeneity-among-17-patients-from-a-portuguese-tertiary-centre
#5
Raquel Samões, Jorge Oliveira, Ricardo Taipa, Teresa Coelho, Márcio Cardoso, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Manuela Santos
BACKGROUND: Pathogenic variants in ryanodine receptor type 1 (RYR1) gene are an important cause of congenital myopathy. The clinical, histopathologic and genetic spectrum is wide. OBJECTIVE: Review a group of the patients diagnosed with ryanodinopathy in a tertiary centre from North Portugal, as an attempt to define some phenotypical patterns that may help guiding future diagnosis. METHODS: Patients were identified from the database of the reference centre for Neuromuscular Disorders in North Portugal...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28260211/respiratory-muscle-contractile-inactivity-induced-by-mechanical-ventilation-in-piglets-leads-to-leaky-ryanodine-receptors-and-diaphragm-weakness
#6
Stefan Matecki, Boris Jung, Nathalie Saint, Valerie Scheuermann, Samir Jaber, Alain Lacampagne
Respiratory muscle contractile inactivity during mechanical ventilation (MV) induces diaphragm muscle weakness, a condition referred to as ventilator-induced diaphragmatic dysfunction (VIDD). Although VIDD pathophysiological mechanisms are still not fully understood, it has been recently suggested that remodeling of the sarcoplasmic reticulum (SR) calcium release channel/ryanodine receptors (RyR1) in the diaphragm is a proximal mechanism of VIDD. Here, we used piglets, a large animal model of VIDD that is more relevant to human pathophysiology, to determine whether RyR1 alterations are observed in the presence of diaphragm weakness...
March 4, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28259615/resequencing-array-for-gene-variant-detection-in-malignant-hyperthermia-and-butyrylcholinestherase-deficiency
#7
Soledad Levano, Asensio Gonzalez, Martine Singer, Philippe Demougin, Henrik Rüffert, Albert Urwyler, Thierry Girard
Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene. Genotyping for known pathogenic variants in these genes is useful to help identify susceptible individuals, and others may exist but remain unknown, because full-length sequence of these genes is, in general, not investigated. To facilitate this task, we developed a resequencing DNA array, the perioperative patient safety (POPS) array, to be able to screen the entire coding sequences of the RyR1, CACNA1S and BCHE genes...
February 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28228260/chemotherapy-induced-ca-2-release-stimulates-breast-cancer-stem-cell-enrichment
#8
Haiquan Lu, Ivan Chen, Larissa A Shimoda, Youngrok Park, Chuanzhao Zhang, Linh Tran, Huimin Zhang, Gregg L Semenza
Breast cancer stem cells (BCSCs) play a critical role in tumor recurrence and metastasis. Exposure of breast cancer cells to chemotherapy leads to an enrichment of BCSCs. Here, we find that chemotherapy induces the expression of glutathione S-transferase omega 1 (GSTO1), which is dependent on hypoxia-inducible factor 1 (HIF-1) and HIF-2. Knockdown of GSTO1 expression abrogates carboplatin-induced BCSC enrichment, decreases tumor initiation and metastatic capacity, and delays tumor recurrence after chemotherapy...
February 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28206967/calcium-regulatory-proteins-as-modulators-of-chemotherapy-in-human-neuroblastoma
#9
Ana-Maria Florea, Elizabeth Varghese, Jennifer E McCallum, Safa Mahgoub, Irfan Helmy, Sharon Varghese, Neha Gopinath, Steffen Sass, Fabian J Theis, Guido Reifenberger, Dietrich Büsselberg
Neuroblastoma (NB) is a pediatric cancer treated with poly-chemotherapy including platinum complexes (e.g. cisplatin (CDDP), carboplatin), DNA alkylating agents, and topoisomerase I inhibitors (e.g. topotecan (TOPO)). Despite aggressive treatment, NB may become resistant to chemotherapy. We investigated whether CDDP and TOPO treatment of NB cells interacts with the expression and function of proteins involved in regulating calcium signaling. Human neuroblastoma cell lines SH-SY5Y, IMR-32 and NLF were used to investigate the effects of CDDP and TOPO on cell viability, apoptosis, calcium homeostasis, and expression of selected proteins regulating intracellular calcium concentration ([Ca2+]i)...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28159581/recombinant-expression-of-intrepicalcin-from-the-scorpion-vaejovis-intrepidus-and-its-effect-on-skeletal-ryanodine-receptors
#10
Leonel Vargas-Jaimes, Liang Xiao, Jing Zhang, Lourival D Possani, Héctor H Valdivia, Verónica Quintero-Hernández
BACKGROUND: Scorpion venoms contain toxins that modulate ionic channels, among which are the calcins, a small group of short, basic peptides with an Inhibitor Cystine Knot (ICK) motif that target calcium release channels/ryanodine receptors (RyRs) with high affinity and selectivity. Here we describe the heterologous expression of Intrepicalcin, identified by transcriptomic analysis of venomous glands from Vaejovis intrepidus. METHODS: Recombinant Intrepicalcin was obtained in Escherichia coli BL21-DE3 (periplasm) by fusing the Intrepicalcin gene to sequences coding for signal-peptide, thioredoxin, His-tag and enterokinase cleavage site...
April 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28143888/divergent-mechanisms-leading-to-signaling-dysfunction-in-embryonic-muscle-by-bisphenol-a-and-tetrabromobisphenol-a
#11
Rui Zhang, Isaac N Pessah
Bisphenol A (BPA) and its brominated derivative tetrabromobisphenol A (TBBPA) are high production volume chemicals used in the manufacture of various consumer products. Although regarded as endocrine disruptors, these chemicals are suspected to exert nongenomic actions on muscle function that are not well understood. Using skeletal muscle microsomes, we examined the effects of BPA and TBBPA on ryanodine receptor type 1 (RyR1), dihydropyridine receptor (DHPR), and sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase (SERCA)...
April 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28102470/neuronal-ryanodine-receptors-in-development-and-aging
#12
REVIEW
Nawaf Abu-Omar, Jogita Das, Vivian Szeto, Zhong-Ping Feng
Ryanodine receptors (RyRs) are intracellular calcium-release channels found on the endoplasmic reticulum of all cells. All three RyR isoforms, RyR1-3, are expressed in the brain, with RyR2 predominating. RyRs are localized within the soma, axons, dendritic spines, and presynaptic terminals of neurons. RyRs are highly expressed in the cerebellum, hippocampus, olfactory region, basal ganglia, and cerebral cortex. During the physiological processes of development and aging, the intracellular calcium homeostasis is largely regulated by RyRs...
January 19, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28087430/ryanodine-receptor-1-polymorphism-is-not-associated-with-aneurysmal-subarachnoid-hemorrhage-or-its-clinical-sequelae
#13
Philipp Hendrix, Paul M Foreman, Mark R Harrigan, Winfield S Fisher, Nilesh A Vyas, Robert H Lipsky, Minkuan Lin, Beverly C Walters, R Shane Tubbs, Mohammadali M Shoja, Jean-Francois Pittet, Mali Mathru, Christoph J Griessenauer
OBJECTIVE: The pathophysiological mechanisms underlying cerebral vasospasm following aneurysmal subarachnoid hemorrhage (aSAH) remain poorly understand. Ryanodine receptors (RYR) are intracellular calcium channels involved in the regulation of vascular smooth muscle cells and cerebrovascular tone and diameter. Previous work reported an association between a RYR polymorphism and cerebral vasospasm. Here, we sought to assess the impact of that RYR polymorphism on aSAH and its clinical sequelae...
January 10, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28077437/sensitized-signalling-between-l-type-ca2-channels-and-ryanodine-receptors-in-the-absence-or-inhibition-of-fkbp12-6-in-cardiomyocytes
#14
Yan-Ting Zhao, Yun-Bo Guo, Lei Gu, Xue-Xin Fan, Hua-Qian Yang, Zheng Chen, Peng Zhou, Qi Yuan, Guang-Ju Ji, Shi-Qiang Wang
AIMS: The heart contraction is controlled by the Ca(2+)-induced Ca(2+ )release (CICR) between L-type Ca(2+ )channels and ryanodine receptors (RyRs). The FK506-binding protein FKBP12.6 binds to RyR subunits, but its role in stabilizing RyR function has been debated for long. Recent reports of high-resolution RyR structure show that the HD2 domain that binds to the SPRY2 domain of neighbouring subunit in FKBP-bound RyR1 is detached and invisible in FKBP-null RyR2. The present study was to test the consequence of FKBP12...
January 10, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28063098/muscular-body-build-and-male-sex-are-independently-associated-with-malignant-hyperthermia-susceptibility
#15
Brian Butala, Barbara Brandom
PURPOSE: Malignant hyperthermia susceptibility (MHS) is a disorder of the regulation of calcium in skeletal muscle. Muscular individuals have been shown to have a 13.6-fold increased risk of death during malignant hyperthermia (MH) episodes and are more likely to experience a recurrence after initial treatment. Twenty-five percent of severe MH episodes have occurred in elite athletes. This study investigated the association between MHS and muscular body build. METHODS: Data were obtained from existing reports in the North American Malignant Hyperthermia Registry, including the Report of Muscle Biopsy and Contracture Testing (caffeine-halothane contracture test [CHCT]) as well as Adverse Metabolic or Muscular Reaction to Anesthesia (AMRA) reports...
April 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28044347/decreased-intracellular-ca-2-coincides-with-reduced-expression-of-dhpr%C3%AE-1s-ryr1-and-diaphragmatic-dysfunction-in-a-rat-model-of-sepsis
#16
Meng-Meng Wang, Li-Ying Hao, Feng Guo, Bin Zhong, Xiao-Mei Zhong, Jing Yuan, Yi-Fei Hao, Shuang Zhao, Xue-Fei Sun, Ming Lei, Guang-Yu Jiao
INTRODUCTION: Sepsis can cause decreased diaphragmatic contractility. Intracellular calcium as a second messenger is central to diaphragmatic contractility. However, changes in intracellular calcium concentration ([Ca(2+) ]) and the distribution and co-localization of relevant calcium channels (dihydropyridine receptors, DHPRα1s; ryanodine receptors, RyR1) remain unclear during sepsis. OBJECTIVES: We investigated the effect of changed intracellular [Ca(2+) ] and expression and distribution of DHPRα1s and RyR1 on diaphragm function during sepsis...
January 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28012042/dihydropyridine-receptor-dhpr-cacna1s-congenital-myopathy
#17
Vanessa Schartner, Norma B Romero, Sandra Donkervoort, Susan Treves, Pinki Munot, Tyler Mark Pierson, Ivana Dabaj, Edoardo Malfatti, Irina T Zaharieva, Francesco Zorzato, Osorio Abath Neto, Guy Brochier, Xavière Lornage, Bruno Eymard, Ana Lía Taratuto, Johann Böhm, Hernan Gonorazky, Leigh Ramos-Platt, Lucy Feng, Rahul Phadke, Diana X Bharucha-Goebel, Charlotte Jane Sumner, Mai Thao Bui, Emmanuelle Lacene, Maud Beuvin, Clémence Labasse, Nicolas Dondaine, Raphael Schneider, Julie Thompson, Anne Boland, Jean-François Deleuze, Emma Matthews, Aleksandra Nadaj Pakleza, Caroline A Sewry, Valérie Biancalana, Susana Quijano-Roy, Francesco Muntoni, Michel Fardeau, Carsten G Bönnemann, Jocelyn Laporte
Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca(2+) channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca(2+) release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad. Here, we characterize a novel class of congenital myopathy at the morphological, molecular, and functional levels...
April 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28011884/pharmacogenetics-and-pathophysiology-of-cacna1s-mutations-in-malignant-hyperthermia
#18
Teresa Ann Beam, Emily F Loudermilk, David F Kisor
A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malignant hyperthermia susceptibility type 5 (MHS5; MIM #60188) is presented. Malignant hyperthermia (MH) is a life-threatening hypermetabolic state of skeletal muscle usually induced by volatile, halogenated anesthetics and/or the depolarizing neuromuscular blocker succinylcholine. In addition to ryanodine receptor 1 (RYR1) mutations, several CACNA1S mutations are known to be risk factors for increased susceptibility to MH (MHS)...
December 23, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28007904/cellular-biochemical-and-molecular-changes-in-muscles-from-patients-with-x-linked-myotubular-myopathy-due-to-mtm1-mutations
#19
Christoph Bachmann, Heinz Jungbluth, Francesco Muntoni, Adnan Y Manzur, Francesco Zorzato, Susan Treves
Centronuclear myopathies are early-onset muscle diseases caused by mutations in several genes including MTM1, DNM2, BIN1, RYR1 and TTN The most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in the gene encoding the ubiquitous lipid phosphatase myotubularin, an enzyme specifically dephosphorylating phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Because XLMTM patients have a predominantly muscle-specific phenotype a number of pathogenic mechanisms have been proposed, including a direct effect of the accumulated lipid on the skeletal muscle calcium channel ryanodine receptor 1, a negative effect on the structure of intracellular organelles and defective autophagy...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28003463/congenital-myopathy-results-from-misregulation-of-a-muscle-ca2-channel-by-mutant-stac3
#20
Jeremy W Linsley, I-Uen Hsu, Linda Groom, Viktor Yarotskyy, Manuela Lavorato, Eric J Horstick, Drew Linsley, Wenjia Wang, Clara Franzini-Armstrong, Robert T Dirksen, John Y Kuwada
Skeletal muscle contractions are initiated by an increase in Ca(2+) released during excitation-contraction (EC) coupling, and defects in EC coupling are associated with human myopathies. EC coupling requires communication between voltage-sensing dihydropyridine receptors (DHPRs) in transverse tubule membrane and Ca(2+) release channel ryanodine receptor 1 (RyR1) in the sarcoplasmic reticulum (SR). Stac3 protein (SH3 and cysteine-rich domain 3) is an essential component of the EC coupling apparatus and a mutation in human STAC3 causes the debilitating Native American myopathy (NAM), but the nature of how Stac3 acts on the DHPR and/or RyR1 is unknown...
January 10, 2017: Proceedings of the National Academy of Sciences of the United States of America
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