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https://www.readbyqxmd.com/read/28096415/increased-mitochondrial-nanotunneling-activity-induced-by-calcium-imbalance-affects-intermitochondrial-matrix-exchanges
#1
Manuela Lavorato, V Ramesh Iyer, Williams Dewight, Ryan R Cupo, Valentina Debattisti, Ludovic Gomez, Sergio De la Fuente, Yan-Ting Zhao, Héctor H Valdivia, György Hajnóczky, Clara Franzini-Armstrong
Exchanges of matrix contents are essential to the maintenance of mitochondria. Cardiac mitochondrial exchange matrix content in two ways: by direct contact with neighboring mitochondria and over longer distances. The latter mode is supported by thin tubular protrusions, called nanotunnels, that contact other mitochondria at relatively long distances. Here, we report that cardiac myocytes of heterozygous mice carrying a catecholaminergic polymorphic ventricular tachycardia-linked RyR2 mutation (A4860G) show a unique and unusual mitochondrial response: a significantly increased frequency of nanotunnel extensions...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
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
#2
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/28065668/ablation-of-the-cardiac-ryanodine-receptor-phospho-site-ser2808-does-not-alter-the-adrenergic-response-or-the-progression-to-heart-failure-in-mice-elimination-of-the-genetic-background-as-critical-variable
#3
Francisco J Alvarado, Xi Chen, Héctor H Valdivia
BACKGROUND: Phosphorylation of the cardiac ryanodine receptor (RyR2) phospho-site S2808 has been touted by the Marks group as a hallmark of heart failure (HF) and a critical mediator of the physiological fight-or-flight response of the heart. In support of this hypothesis, mice unable to undergo phosphorylation at RyR2-S2808 (S2808A) were significantly protected against HF and displayed a blunted response to adrenergic stimulation. However, the issue remains highly controversial because several groups have been unable to reproduce these findings...
January 6, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28003438/bde-47-and-bde-49-inhibit-axonal-growth-in-primary-rat-hippocampal-neuron-glia-co-cultures-via-ryanodine-receptor-dependent-mechanisms
#4
Hao Chen, Karin M Streifel, Vikrant Singh, Dongren Yang, Linley Mangini, Heike Wulff, Pamela J Lein
Polybrominated diphenyl ethers (PBDEs) are widespread environmental contaminants associated with adverse neurodevelopmental outcomes in children and preclinical models; however, the mechanisms by which PBDEs cause developmental neurotoxicity remain speculative. The structural similarity between PBDEs and non-dioxin-like (NDL) polychlorinated biphenyls (PCBs) suggests shared toxicological properties. Consistent with this, both NDL PCBs and PBDEs have been shown to stabilize ryanodine receptors (RyRs) in the open configuration...
December 20, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/27988446/a-novel-variant-in-ryr2-causes-familiar-catecholaminergic-polymorphic-ventricular-tachycardia
#5
Cristina Bosch, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Alexandra Perez-Serra, Monica Coll, Irene Mademont, Jesus Mates, Bernat Del Olmo, Anna Iglesias, Josep Brugada, Volker Petersen, Ramon Brugada
Catecholaminergic polymorphic ventricular tachycardia is a rare familial arrhythmogenic disease. It usually occurs in juvenile patients with a structurally normal heart and causes exercise-emotion triggered syncope and sudden cardiac death. The main gene associated with catecholaminergic polymorphic ventricular tachycardia is RyR2, encoding the cardiac ryanodine receptor protein which is involved in calcium homeostasis. After the identification of a 16 year-old man presenting with exercise-induced sudden cardiac death, clinically diagnosed as catecholaminergic polymorphic ventricular tachycardia, we collected the family information and performed a comprehensive genetic analysis using Next Generation Sequencing technology...
December 9, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27987400/an-insertion-deletion-polymorphism-within-3-utr-of-ryr2-modulates-sudden-unexplained-death-risk-in-chinese-populations
#6
Shouyu Wang, Zhixiang Zhang, Ya Yang, Chaoqun Wang, Ruiyang Tao, Shuxiang Hu, Zhixia Yin, Qing Zhang, Lijuan Li, Yan He, Shaohua Zhu, Chengtao Li, Suhua Zhang, Jianhua Zhang, Lihui Sheng, Fangyu Wu, Bin Luo, Yuzhen Gao
Sudden unexplained death (SUD) constitutes a part of the overall sudden death that can not be underestimated. Over the last years, genetic testing on SUD has revealed that inherited channelopathies might play important roles in the pathophysiology of this disease. Ryanodine receptor type-2 (RYR2) is a kind of ion channel extensively distributed in the sarcoplasmic reticulum (SR) of myocardium. Studies on RYR2 have suggested that either dysfunction or abnormal expression of it could lead to arrhythmia, which may cause cardiac arrest...
December 9, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27927985/the-arrhythmogenic-calmodulin-p-phe142leu-mutation-impairs-c-domain-ca2-binding-but-not-calmodulin-dependent-inhibition-of-the-cardiac-ryanodine-receptor
#7
Mads Toft Søndergaard, Yingjie Liu, Kamilla Taunsig Larsen, Alma Nani, Xixi Tian, Christian Holt, Ruiwu Wang, Reinhard Wimmer, Filip Van Petegem, Michael Fill, S R Wayne Chen, Michael Toft Overgaard
A number of point mutations in the intracellular Ca2+-sensing protein calmodulin (CaM) are arrhythmogenic, yet their underlying mechanisms are not clear. These mutations generally decrease Ca2+ binding to CaM and impair inhibition of CaM-regulated Ca2+ channels like the cardiac Ca2+-release channel (ryanodine receptor, RyR2), and it appears that attenuated CaM Ca2+-binding correlates with impaired CaM-dependent RyR2 inhibition. Here, we investigated the RyR2 inhibitory action of the CaM p.Phe142Leu mutation (F142L; numbered including the start methionine), which markedly reduces CaM Ca2+-binding...
December 7, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27909533/patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes-for-drug-development-and-screening-in-catecholaminergic-polymorphic-ventricular-tachycardia
#8
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/27882143/expression-of-connexin-43-ion-channels-and-ca-2-handling-proteins-in-rat-pulmonary-vein-cardiomyocytes
#9
Yaqiong Xiao, Xue Cai, Andrew Atkinson, Sunil Jit Logantha, Mark Boyett, Halina Dobrzynski
Atrial fibrillation (AF) is the most common cardiac arrhythmia. AF is thought to be triggered by ectopic beats, originating primarily in the myocardial sleeves surrounding the pulmonary veins (PVs). The mechanisms underlying these cardiac arrhythmias remain unclear. To investigate this, frozen sections of heart and lung tissue from adult rats without arrhythmia were obtained in different planes, stained with Masson's trichrome, and immunolabeled for connexin 43 (Cx43), caveolin-3 (Cav3), hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4), Nav1...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27866413/disbalance-of-calcium-regulation-related-genes-in-heart-of-broilers-induced-by-selenium-deficiency
#10
Ziwei Zhang, Man Liu, Zhenqiong Guan, Jie Yang, Zhonghua Liu, Shiwen Xu
Dietary selenium (Se) deficiency may influence the calcium (Ca) homeostasis in broilers. Our objective was to investigate the effects of Se deficiency on Ca regulation related genes' change in heart of broilers. In the present study, 1-day-old broilers were fed either a commercial diet (as control group) with 0.15 mg/kg Se or a Se-deficient diet (as L group) with 0.033 mg/kg Se for 35 days. We examined the mRNA expression levels of 15 Ca regulation related genes (ITPR 1, ITPR 2, ITPR3, RyR2, RyR3, SERCA1s, SLC8A1, PMCA1, CACNA1S, TRPC1, TRPC3, STIM1, ORAI1, CaLM and CRT) in the heart of broilers...
November 21, 2016: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/27866274/ryanodine-receptor-type-3-does-not-contribute-to-contractions-in-the-mouse-myometrium-regardless-of-pregnancy
#11
Katsuhito Matsuki, Masashi Takemoto, Yoshiaki Suzuki, Hisao Yamamura, Susumu Ohya, Hiroshi Takeshima, Yuji Imaizumi
Ryanodine receptor type 3 (RyR3) is expressed in myometrial smooth muscle cells (MSMCs). The short isoform of RyR3 is a dominant negative variant (DN-RyR3) and negatively regulates the functions of RyR2 and full-length (FL)-RyR3. DN-RyR3 has been suggested to function as a major RyR3 isoform in non-pregnant (NP) mouse MSMCs, and FL-RyR3 may also be upregulated during pregnancy (P). This increase in the FL-RyR3/DN-RyR3 ratio may contribute to the strong contractions by MSMCs for parturition. In the present study, spontaneous contractions by the myometrium in NP and P mice were highly susceptible to nifedipine but were not affected by ryanodine...
November 20, 2016: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/27861184/catecholaminergic-polymorphic-ventricular-tachycardia-a-model-for-genotype-specific-therapy
#12
Thomas M Roston, Filip Van Petegem, Shubhayan Sanatani
PURPOSE OF REVIEW: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening syndrome defined by exercise-induced or emotion-induced ventricular arrhythmias, typically caused by gain-of-function mutations in RYR2-encoded ryanodine receptor-2 (RyR2). This review will discuss recent advances and ongoing challenges in devising genotype-specific CPVT therapies. RECENT FINDINGS: CPVT patients were once universally thought to be at high risk of sudden death; however, as more cases emerge, CPVT is being re-defined as a complex syndrome of variable expressivity...
January 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/27857207/genomic-contributors-to-atrial-electroanatomical-remodeling-and-atrial-fibrillation-progression-pathway-enrichment-analysis-of-gwas-data
#13
Daniela Husser, Laura Ueberham, Borislav Dinov, Jedrzej Kosiuk, Jelena Kornej, Gerhard Hindricks, M Benjamin Shoemaker, Dan M Roden, Andreas Bollmann, Petra Büttner
In atrial fibrillation (AF), left atrial diameter (LAD) and low voltage area (LVA) are intermediate phenotypes that are associated with AF type and progression. In this study, we tested the hypothesis, that these phenotypes share common, genetically-determined pathways using pathway enrichment analysis of GWAS data. Samples from 660 patients with paroxysmal (n = 370) or persistent AF (n = 290) were genotyped for ~1,000,000 SNPs. SNPs found significantly associated with LAD, LVA or AF type were used for gene-based association tests in a systematic biological Knowledge-based mining system for Genome-wide Genetic studies (KGG)...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27818320/suppression-of-function-mutations-in-the-cardiac-ryanodine-receptor-emerging-evidence-for-a-novel-arrhythmia-syndrome
#14
EDITORIAL
Thomas M Roston, Shubhayan Sanatani, S R Wayne Chen
No abstract text is available yet for this article.
January 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27789712/the-cytoplasmic-region-of-inner-helix-s6-is-an-important-determinant-of-cardiac-ryanodine-receptor-channel-gating
#15
Bo Sun, Wenting Guo, Xixi Tian, Jinjing Yao, Lin Zhang, Ruiwu Wang, S R Wayne Chen
The ryanodine receptor (RyR) channel pore is formed by four S6 inner helices, with its intracellular gate located at the S6 helix bundle crossing region. The cytoplasmic region of the extended S6 helix is held by the U motif of the central domain and is thought to control the opening and closing of the S6 helix bundle. However, the functional significance of the S6 cytoplasmic region in channel gating is unknown. Here we assessed the role of the S6 cytoplasmic region in the function of cardiac RyR (RyR2) via structure-guided site-directed mutagenesis...
December 9, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27771715/er-stress-via-chop-pathway-is-involved-in-fk506-induced-apoptosis-in-rat-fibroblasts
#16
Jian Tang, Yingbin Ge, Lei Yang, Xinyu Xu, Tao Sui, Dawei Ge, Jun Que, Xiaojian Cao
BACKGROUND/AIMS: Hypertrophic scars (HS) formation results from reduced apoptosis and increased proliferation of fibroblasts. Therefore, apoptosis of fibroblasts is a key target for the development of novel therapeutic strategies for HS. Previous reports demonstrated that FK506 could attenuate scar formation in vivo and FK506 could also induce endoplasmic reticulum stress (ER stress). However, the effects of FK506 on ER stress-mediated apoptosis in fibroblasts remain unclear. METHODS: Rat skin fibroblasts were used in the study...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27771553/correction-of-impaired-calmodulin-binding-to-ryr2-as-a-novel-therapy-for-lethal-arrhythmia-in-the-pressure-overloaded-heart-failure
#17
Takayoshi Kato, Takeshi Yamamoto, Yoshihide Nakamura, Takuma Nanno, Go Fukui, Yoko Sufu, Yoriomi Hamada, Takako Maeda, Shigehiko Nishimura, Hironori Ishiguchi, Wakako Murakami, Masakazu Fukuda, Xiaojuan Xu, Akihiro Hino, Makoto Ono, Tetsuro Oda, Shinichi Okuda, Shigeki Kobayashi, Noritaka Koseki, Hiroyuki Kyushiki, Masafumi Yano
BACKGROUND: Calmodulin (CaM) is a key modulator of the channel gating function of the ryanodine receptor (RyR). OBJECTIVE: The purpose of this study was to investigate the pathogenic role of RyR-bound CaM in diastolic Ca(2+) leakage from the sarcoplasmic reticulum and arrhythmogenesis in pressure-overloaded heart failure. METHODS: Pressure overload was induced in 12-week-old mice by transverse aortic constriction (TAC) using a 27-gauge needle...
January 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27761157/current-topics-in-catecholaminergic-polymorphic-ventricular-tachycardia
#18
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/27760414/junctophilin-2-gene-therapy-rescues-heart-failure-by-normalizing-ryr2-mediated-ca-2-release
#19
Julia O Reynolds, Ann P Quick, Qiongling Wang, David L Beavers, Leonne E Philippen, Jordan Showell, Giselle Barreto-Torres, Donna J Thuerauf, Shirin Doroudgar, Christopher C Glembotski, Xander H T Wehrens
BACKGROUND: Junctophilin-2 (JPH2) is the primary structural protein for the coupling of transverse (T)-tubule associated cardiac L-type Ca channels and type-2 ryanodine receptors on the sarcoplasmic reticulum within junctional membrane complexes (JMCs) in cardiomyocytes. Effective signaling between these channels ensures adequate Ca-induced Ca release required for normal cardiac contractility. Disruption of JMC subcellular domains, a common feature of failing hearts, has been attributed to JPH2 downregulation...
December 15, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27756708/a-type-2-ryanodine-receptor-variant-associated-with-reduced-ca-2-release-and-short-coupled-torsades-de-pointes-ventricular-arrhythmia
#20
Yusuke Fujii, Hideki Itoh, Seiko Ohno, Takashi Murayama, Nagomi Kurebayashi, Hisaaki Aoki, Malorie Blancard, Yoshihisa Nakagawa, Satoshi Yamamoto, Yumie Matsui, Mari Ichikawa, Keiko Sonoda, Tomoya Ozawa, Kimie Ohkubo, Ichiro Watanabe, Pascale Guicheney, Minoru Horie
BACKGROUND: Ventricular fibrillation may be caused by premature ventricular contractions (PVCs) whose coupling intervals are <300 ms, a characteristic of the short-coupled variant of torsades de pointes (scTdP). OBJECTIVE: The purpose of this study was to analyze the underlying cardiac ryanodine receptor (RyR2) variants in patients with scTdP. METHODS: Seven patients with scTdP (mean age 34 ± 12 years; 4 men and 3 women) were enrolled in this study...
January 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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