The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro- m -cresol in human myotubes

Wehner, Markus; Rueffert, Henrik; Koenig, F.; Meinecke, C.-D.; Olthoff, D

doi:10.1016/s0143-4160(03)00072-1

Cited by 25 publications

(12 citation statements)

References 21 publications

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“…Therefore, HEK-293 cells [16,17] bearing RYR1 mutations have been used. The EC 50 values of RYR1 activators in the mutant RYR1 were reported to be half those of the wild-type of RYR1 [14]. In the present study, the EC 50 values of caffeine and 4CmC for HEK-293 cells expressing p.R2508C were 1.86 mM and 73.14 μM, and those for wild-type were 2.62 mM and 179.31 μM, respectively.…”

Section: Discussionsupporting

confidence: 43%

“…Myotubes, microsomal SR preparations, and lymphoblasts derived from patients carrying mutations were used to investigate transient calcium currents in response to ryanodine receptor activators such as caffeine, 4CmC, and halothane, and the role of RYR1 mutations in the pathogenesis of MH [12][13][14][15]. However, to perform functional analysis using human primary myotubes, several independent pedigrees of the mutation are needed.…”

Section: Discussionmentioning

confidence: 99%

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Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

et al. 2009

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Section: Discussionsupporting

confidence: 43%

Section: Discussionmentioning

confidence: 99%

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

et al. 2009

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“…These include the use of lymphoblastoid cell lines generated from MHS individuals [59-61]. COS-7 or HEK293 cells transfected with the cDNA for rabbit RYR1 carrying point mutations introduced by site-directed mutagenesis [19,62,63], myotubes generated from muscle biopsy tissue [44,64-66] and 1B5 dyspedic myotubes transduced with wild type and mutated RYR1 cDNA [67]. Calcium release can be monitored and quantified using calcium-specific indicators like fluo-4 and fura-2 [68], [ 3 H] ryanodine binding assays [67,69], and, indirectly, by protein release [70].…”

Section: Laboratory Diagnostic Methodsmentioning

confidence: 99%

Malignant hyperthermia

Rosenberg

Davis

James

et al. 2007

Orphanet J Rare Dis

396

340

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“…4E. This, together with the insensitivity to ryanodine makes it similar to a RyR in malignant insomnia patients [125]. Also the position in a subcellular compartment reminds the terminal cisternae in muscle, as does the SOCE mechanism -another characteristic of skeletal muscle cells [126].…”

Section: Ryanodine Receptor-like Proteins In Parameciummentioning

confidence: 99%

Molecular aspects of calcium signalling at the crossroads of unikont and bikont eukaryote evolution – The ciliated protozoan Paramecium in focus

Plattner

2015

Cell Calcium

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The ciliated protozoan, Paramecium tetraurelia has a high basic Ca(2+) leakage rate which is counteracted mainly by export through a contractile vacuole complex, based on its V-type H(+)-ATPase activity. In addition Paramecium cells dispose of P-type Ca(2+)-ATPases, i.e. a plasmamembrane and a sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase (PMCA, SERCA). Antiporter systems are to be expected, as inferred from indirect evidence. Among the best known cytosolic Ca(2+)-binding proteins, calmodulin activates Ca(2+) influx channels in the somatic cell membrane, but inactivates Ca(2+) influx channels in cilia, where it, thus, ends ciliary reversal induced by depolarization via channels in the somatic cell membrane. Centrin inactivates Ca(2+) signals after stimulation by its high capacity/low affinity binding sites, whereas its high affinity sites regulate some other functions. Cortical Ca(2+) stores (alveolar sacs) are activated during stimulated trichocyst exocytosis and thereby mediate store-operated Ca(2+) entry (SOCE). Ca(2+) release channels (CRCs) localised to alveoli and underlying SOCE are considered as Ryanodine receptor-like proteins (RyR-LPs) which are members of a CRC family with 6 subfamilies. These also encompass genuine inositol 1,4,5-trisphosphate receptors (IP3Rs) and intermediates between the two channel types. All IP3R/RyR-type CRCs possess six carboxyterminal transmembrane domains (TMD), with a pore domain between TMD 5 and 6, endowed with a characteristic selectivity filter. There are reasons to assume a common ancestor molecule for such channels and diversification further on in evolution. The distinct distribution of specific CRCs in the different vesicles undergoing intracellular trafficking suggests constitutive formation of very locally restricted Ca(2+) signals during vesicle-vesicle interaction. In summary, essential steps of Ca(2+) signalling already occur at this level of evolution, including an unexpected multitude of CRCs. For dis-/similarities with other bikonts see "Conclusions".

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The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro- m -cresol in human myotubes

Cited by 25 publications

References 21 publications

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47

Malignant hyperthermia

Molecular aspects of calcium signalling at the crossroads of unikont and bikont eukaryote evolution – The ciliated protozoan Paramecium in focus

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