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https://www.readbyqxmd.com/read/28219898/sk4-k-channels-are-therapeutic-targets-for-the-treatment-of-cardiac-arrhythmias
#1
Shiraz Haron-Khun, David Weisbrod, Hanna Bueno, Dor Yadin, Joachim Behar, Asher Peretz, Ofer Binah, Edith Hochhauser, Michael Eldar, Yael Yaniv, Michael Arad, Bernard Attali
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a stress-provoked ventricular arrhythmia, which also manifests sinoatrial node (SAN) dysfunction. We recently showed that SK4 calcium-activated potassium channels are important for automaticity of cardiomyocytes derived from human embryonic stem cells. Here SK4 channels were identified in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from healthy and CPVT2 patients bearing a mutation in calsequestrin 2 (CASQ2-D307H) and in SAN cells from WT and CASQ2-D307H knock-in (KI) mice...
February 20, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28130614/characterization-of-fast-twitch-and-slow-twitch-skeletal-muscles-of-calsequestrin-2-casq2-knock-out-mice-unexpected-adaptive-changes-of-fast-twitch-muscles-only
#2
Giorgia Valle, Barbara Vergani, Roberta Sacchetto, Carlo Reggiani, Edith De Rosa, Lisa Maccatrozzo, Alessandra Nori, Antonello Villa, Pompeo Volpe
This study investigates the functional role of calsequestrin 2 (CASQ2) in both fast-twitch and slow-twitch skeletal muscles by using CASQ2-/- mice; CASQ2 is expressed throughout life in slow-twitch muscles, but only in the developmental and neonatal stages in fast-twitch muscles. CASQ2-/- causes increase in calsequestrin 1 (CASQ1) expression, but without functional changes in both muscle types. CASQ2-/- mice have ultrastructural changes in fast-twitch muscles only, i.e., formation of pentads and stacks in the sarcoplasmic reticulum...
January 27, 2017: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/28100344/-recurrent-syncope-related-to-catecholaminergic-polymorphic-ventricular-tachycardia-due-to-de-novo-ryr2-r2401h-mutation
#3
X Liu, J X Li, J Z Hu, Y Shen, R Wan, Q M Xiong, Q Q Zhou, J Y Xie, J J Jin, X Yan, J H Yu, K Hong
Objective: To explore the clinical and molecular genetic features of a Chinese patient with catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods: Clinical data including resting electrocardiography, echocardiography and treadmill exercise testing of a patient with CPVT admitted to our department in March 2013 were analyzed, and the peripheral venous blood samples of the patient and his family members and 400 ethnicity-matched healthy controls were obtained. All exons and exon-intron boundaries of the six CPVT-related genes including RYR2, CASQ2, TRDN, CALM1, KCNJ2 and ANKB were sequenced to detect the variants related to CPVT...
January 25, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28076365/gene-expression-profiling-in-slow-type-calf-soleus-muscle-of-30-days-space-flown-mice
#4
Guido Gambara, Michele Salanova, Stefano Ciciliot, Sandra Furlan, Martina Gutsmann, Gudrun Schiffl, Ute Ungethuem, Pompeo Volpe, Hanns-Christian Gunga, Dieter Blottner
Microgravity exposure as well as chronic disuse are two main causes of skeletal muscle atrophy in animals and humans. The antigravity calf soleus is a reference postural muscle to investigate the mechanism of disuse-induced maladaptation and plasticity of human and rodent (rats or mice) skeletal musculature. Here, we report microgravity-induced global gene expression changes in space-flown mouse skeletal muscle and the identification of yet unknown disuse susceptible transcripts found in soleus (a mainly slow phenotype) but not in extensor digitorum longus (a mainly fast phenotype dorsiflexor as functional counterpart to soleus)...
2017: PloS One
https://www.readbyqxmd.com/read/27909533/patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes-for-drug-development-and-screening-in-catecholaminergic-polymorphic-ventricular-tachycardia
#5
REVIEW
Ben Jehuda Ronen, Barad Lili
Catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmia often leading to sudden cardiac death in children and young adults, is characterized by polymorphic/bidirectional ventricular tachycardia induced by adrenergic stimulation associated with emotionally stress or physical exercise. There are two forms of CPVT: 1. CPVT1 is caused by mutations in the RYR2 gene, encoding for ryanodine receptor type 2. CPVT1 is the most common form of CPVT in the population, and is inherited by a dominant mechanism...
August 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27832566/sequencing-of-genes-involved-in-the-movement-of-calcium-across-human-skeletal-muscle-sarcoplasmic-reticulum-continuing-the-search-for-genes-associated-with-malignant-hyperthermia
#6
A R Bjorksten, R L Gillies, B M Hockey, D Du Sart
The genetic basis of malignant hyperthermia (MH) is not fully characterised and likely involves more than just the currently classified mutations in the gene encoding the skeletal muscle ryanodine receptor (<i>RYR1</i>) and the gene encoding the α1 subunit of the dihydropyridine receptor (<i>CACNA1S</i>). In this paper we sequence other genes involved in calcium trafficking within skeletal muscle in patients with positive in vitro contracture tests, searching for alternative genes associated with MH...
November 2016: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/27761157/current-topics-in-catecholaminergic-polymorphic-ventricular-tachycardia
#7
REVIEW
Naokata Sumitomo
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is induced by emotions or exercise in patients without organic heart disease and may be polymorphic or bidirectional in nature. The prognosis of CPVT is not good, and therefore prevention of sudden death is of utmost importance. Genetic variants of CPVT include RyR2, CASQ2, CALM2, TRD, and possibly KCNJ2 and ANK2 gene mutations. Hypotheses that suggest the causes of CPVT include weakened binding of FKBP12.6 and RyR2, a store overload-induced Ca(2+) release (SOICR), unzipping of intramolecular domain interactions in RyR2, and molecular and functional abnormalities caused by mutations in the CASQ2 gene...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27747307/neuronal-na-channels-are-integral-components-of-pro-arrhythmic-na-ca-2-signaling-nanodomain-that-promotes-cardiac-arrhythmias-during-%C3%AE-adrenergic-stimulation
#8
Przemysław B Radwański, Hsiang-Ting Ho, Rengasayee Veeraraghavan, Lucia Brunello, Bin Liu, Andriy E Belevych, Sathya D Unudurthi, Michael A Makara, Silvia G Priori, Pompeo Volpe, Antonis A Armoundas, Wolfgang H Dillmann, Bjorn C Knollmann, Peter J Mohler, Thomas J Hund, Sándor Györke
BACKGROUND: Cardiac arrhythmias are a leading cause of death in the US. Vast majority of these arrhythmias including catecholaminergic polymorphic ventricular tachycardia (CPVT) are associated with increased levels of circulating catecholamines and involve abnormal impulse formation secondary to aberrant Ca(2+) and Na(+) handling. However, the mechanistic link between β-AR stimulation and the subcellular/molecular arrhythmogenic trigger(s) remains elusive. METHODS AND RESULTS: We performed functional and structural studies to assess Ca(2+) and Na(+) signaling in ventricular myocyte as well as surface electrocardiograms in mouse models of cardiac calsequestrin (CASQ2)-associated CPVT...
June 2016: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/27711080/adeno-associated-virus-mediated-casq2-delivery-rescues-phenotypic-alterations-in-a-patient-specific-model-of-recessive-catecholaminergic-polymorphic-ventricular-tachycardia
#9
Francesco Lodola, Diego Morone, Marco Denegri, Rossana Bongianino, Hiroko Nakahama, Lucia Rutigliano, Rosanna Gosetti, Giulia Rizzo, Alessandra Vollero, Michelangelo Buonocore, Carlo Napolitano, Gianluigi Condorelli, Silvia G Priori, Elisa Di Pasquale
Catecholaminergic Polymorphic Ventricular Tachycardia type 2 (CPVT2) is a highly lethal recessive arrhythmogenic disease caused by mutations in the calsequestrin-2 (CASQ2) gene. We have previously demonstrated that viral transfer of the wild-type (WT) CASQ2 gene prevents the development of CPVT2 in a genetically induced mouse model of the disease homozygous carrier of the R33Q mutation. In the present study, we investigated the efficacy of the virally mediated gene therapy in cardiomyocytes (CMs) differentiated from induced pluripotent stem cells (iPSCs) obtained from a patient carrying the homozygous CASQ2-G112+5X mutation...
October 6, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27392582/three-dimensional-adult-cardiac-extracellular-matrix-promotes-maturation-of-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#10
Ashley H Fong, Mónica Romero-López, Christopher M Heylman, Mark Keating, David Tran, Agua Sobrino, Anh Q Tran, Hiep H Pham, Cristhian Fimbres, Paul D Gershon, Elliot L Botvinick, Steven C George, Christopher C W Hughes
Pluripotent stem cell-derived cardiomyocytes (CMs) have great potential in the development of new therapies for cardiovascular disease. In particular, human induced pluripotent stem cells (iPSCs) may prove especially advantageous due to their pluripotency, their self-renewal potential, and their ability to create patient-specific cell lines. Unfortunately, pluripotent stem cell-derived CMs are immature, with characteristics more closely resembling fetal CMs than adult CMs, and this immaturity has limited their use in drug screening and cell-based therapies...
August 2016: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/27189940/role-of-the-jp45-calsequestrin-complex-on-calcium-entry-in-slow-twitch-skeletal-muscles
#11
Barbara Mosca, Jan Eckhardt, Leda Bergamelli, Susan Treves, Rossana Bongianino, Marco De Negri, Silvia G Priori, Feliciano Protasi, Francesco Zorzato
We exploited a variety of mouse models to assess the roles of JP45-CASQ1 (CASQ, calsequestrin) and JP45-CASQ2 on calcium entry in slow twitch muscles. In flexor digitorum brevis (FDB) fibers isolated from JP45-CASQ1-CASQ2 triple KO mice, calcium transients induced by tetanic stimulation rely on calcium entry via La(3+)- and nifedipine-sensitive calcium channels. The comparison of excitation-coupled calcium entry (ECCE) between FDB fibers from WT, JP45KO, CASQ1KO, CASQ2KO, JP45-CASQ1 double KO, JP45-CASQ2 double KO, and JP45-CASQ1-CASQ2 triple KO shows that ECCE enhancement requires ablation of both CASQs and JP45...
July 8, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27157848/a-novel-heterozygous-mutation-in-cardiac-calsequestrin-causes-autosomal-dominant-catecholaminergic-polymorphic-ventricular-tachycardia
#12
Belinda Gray, Richard D Bagnall, Lien Lam, Jodie Ingles, Christian Turner, Eric Haan, Andrew Davis, Pei-Chi Yang, Colleen E Clancy, Raymond W Sy, Christopher Semsarian
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. Mutations in the cardiac ryanodine receptor gene (RYR2) cause an autosomal dominant form of CPVT, while mutations in the cardiac calsequestrin 2 gene (CASQ2) cause an autosomal recessive form. OBJECTIVE: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant CPVT...
August 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/26968978/exogenous-hydrogen-sulphide-ameliorates-diabetic-cardiomyopathy-in-rats-by-reversing-disordered-calcium-handling-system-in-sarcoplasmic-reticulum
#13
Yu-Si Cheng, De-Zai Dai, Yin Dai, Dong-Dong Zhu, Bi-Cheng Liu
OBJECTIVES: Hydrogen sulphide (H2 S) has been found to be involved in cardiovascular diseases, but the exact mechanism has not been clarified. The purpose of this study was to investigate whether sodium hydrogen sulphide (NaHS), the donor of H2 S, can improve diabetic cardiomyopathy by reversing disordered calcium-handling system in sarcoplasmic reticulum (SR). METHODS: Sprague Dawley rats were injected with streptozotocin (STZ, 60 mg/kg, i.p.) to build diabetic model...
March 2016: Journal of Pharmacy and Pharmacology
https://www.readbyqxmd.com/read/26953612/polymorphism-identification-and-cardiac-gene-expression-analysis-of-the-calsequestrin-2-gene-in-broiler-chickens-with-sudden-death-syndrome
#14
M Basaki, K Asasi, M R Tabandeh, M Aminlari
Sudden death syndrome (SDS) in broilers is a cardiac disease associated with ventricular tachycardia (VT) and ventricular fibrillation (VF); however, its pathogenesis at the molecular level is not precisely determined. Downregulation and mutations of calsequestrin 2 (CASQ2), a major intracellular Ca(2+) buffer, have been associated with VT and sudden cardiac death (SCD) in humans but in chickens there is no report describing CASQ2 abnormalities in cardiac diseases. In order to better understand the molecular mechanisms predisposing the myocardium to fatal arrhythmia in broilers, the mRNA expression level of chicken CASQ2 gene (chCASQ2) in the left ventricle of dead broilers with SDS was determined and compared to healthy broilers using quantitative real-time PCR (qPCR)...
April 2016: British Poultry Science
https://www.readbyqxmd.com/read/26911206/itraq-based-quantitative-proteomic-analysis-reveals-the-distinct-early-embryo-myofiber-type-characteristics-involved-in-landrace-and-miniature-pig
#15
COMPARATIVE STUDY
Xumeng Zhang, Yaosheng Chen, Jinchun Pan, Xiaohong Liu, Hu Chen, Xingyu Zhou, Zhuning Yuan, Xilong Wang, Delin Mo
BACKGROUND: Pig (Sus scrofa) is a major source of dietary proteins for human consumption and is becoming a valuable model in agricultural and biomedical research. The recently developed isobaric tag for relative and absolute quantitation (iTRAQ) method allows sensitive and accurate protein quantification. Here, we performed the first iTRAQ-based quantitative proteomic analyses of Landrace (LR) and Wuzhishan (WZS) pig longissimus dorsi muscle tissues during early embryonic development...
2016: BMC Genomics
https://www.readbyqxmd.com/read/26859763/graded-maximal-exercise-testing-to-assess-mouse-cardio-metabolic-phenotypes
#16
Jennifer M Petrosino, Valerie J Heiss, Santosh K Maurya, Anuradha Kalyanasundaram, Muthu Periasamy, Richard A LaFountain, Jacob M Wilson, Orlando P Simonetti, Ouliana Ziouzenkova
Functional assessments of cardiovascular fitness (CVF) are needed to establish animal models of dysfunction, test the effects of novel therapeutics, and establish the cardio-metabolic phenotype of mice. In humans, the graded maximal exercise test (GXT) is a standardized diagnostic for assessing CVF and mortality risk. These tests, which consist of concurrent staged increases in running speed and inclination, provide diagnostic cardio-metabolic parameters, such as, VO2max, anaerobic threshold, and metabolic crossover...
2016: PloS One
https://www.readbyqxmd.com/read/26625541/left-cardiac-sympathetic-denervation-in-patients-with-casq2-associated-catecholaminergic-polymorphic-ventricular-tachycardia
#17
Ibrahim Marai, Monther Boulos, Asaad Khoury
BACKGROUND: Left cardiac sympathetic denervation (LCSD) was reported to be effective in patients with intractable ryanodine receptor mutation-associated catecholaminergic polymorphic ventricular tachycardia (CPVT). OBJECTIVES: To report our experience with LCSD in calsequestrin (CASQ2) mutation-associated CPVT. METHODS: LCSD was performed in three patients with CASQ2 mutation-associated CPVT with symptoms and exercise-induced ventricular arrhythmia despite high dose beta-blocker RESULTS: None of them experienced symptoms or exercise-induced ventricular arrhythmia after LCSD...
September 2015: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/26585961/calsequestrins-in-skeletal-and-cardiac-muscle-from-adult-danio-rerio
#18
Sandra Furlan, Simone Mosole, Marta Murgia, Nagarjuna Nagaraj, Francesco Argenton, Pompeo Volpe, Alessandra Nori
Calsequestrin (Casq) is a high capacity, low affinity Ca(2+)-binding protein, critical for Ca(2+)-buffering in cardiac and skeletal muscle sarcoplasmic reticulum. All vertebrates have multiple genes encoding for different Casq isoforms. Increasing interest has been focused on mammalian and human Casq genes since mutations of both cardiac (Casq2) and skeletal muscle (Casq1) isoforms cause different, and sometime severe, human pathologies. Danio rerio (zebrafish) is a powerful model for studying function and mutations of human proteins...
April 2016: Journal of Muscle Research and Cell Motility
https://www.readbyqxmd.com/read/26418419/comprehensive-identification-of-sexual-dimorphism-associated-differentially-expressed-genes-in-two-way-factorial-designed-rna-seq-data-on-japanese-quail-coturnix-coturnix-japonica
#19
Kelsey Caetano-Anolles, Minseok Seo, Sandra Rodriguez-Zas, Jae-Don Oh, Jae Yong Han, Kichoon Lee, Tae Sub Park, Sangsu Shin, Zhang Jiao Jiao, Mrinmoy Ghosh, Dong Kee Jeong, Seoae Cho, Heebal Kim, Ki-Duk Song, Hak-Kyo Lee
Japanese quail (Coturnix coturnix japonica) reach sexual maturity earlier, breed rapidly and successfully, and cost less and require less space than other birds raised commercially. Given the value of this species for food production and experimental use, more studies are necessary to determine chromosomal regions and genes associated with gender and breed-differentiation. This study employed Trinity and edgeR for transcriptome analysis of next-generation RNA-seq data, which included 4 tissues obtained from 3 different breeding lines of Japanese quail (random bred control, heavy weight, low weight)...
2015: PloS One
https://www.readbyqxmd.com/read/26410369/ablation-of-hrc-alleviates-cardiac-arrhythmia-and-improves-abnormal-ca-handling-in-casq2-knockout-mice-prone-to-cpvt
#20
Bin Liu, Hsiang-Ting Ho, Lucia Brunello, Sathya D Unudurthi, Qing Lou, Andriy E Belevych, Lan Qian, Do Han Kim, Chunghee Cho, Paul M L Janssen, Thomas J Hund, Bjorn C Knollmann, Evangelia G Kranias, Sándor Györke
AIMS: Cardiac calsequestrin (CASQ2) and histidine-rich Ca-binding protein (HRC) are sarcoplasmic reticulum (SR) Ca-binding proteins that regulate SR Ca release in mammalian heart. Deletion of either CASQ2 or HRC results in relatively mild phenotypes characterized by preserved cardiac structure and function, although CASQ2 knockout (KO), or Cnull, shows increased arrhythmia burden under conditions of catecholaminergic stress. We hypothesized that given the apparent overlap of functions of CASQ2 and HRC, simultaneous ablation of both would deteriorate the cardiac phenotype compared with the single knockouts...
November 1, 2015: Cardiovascular Research
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