Ryanodine Receptor Channelopathies: The New Kid in the Arrhythmia Neighborhood

Fernández‐Velasco, María; Gómez, Ana M.; Bénitah, Jean‐Pierre; Ñeco, Patricia

doi:10.5772/25800

Cited by 5 publications

(6 citation statements)

References 132 publications

(144 reference statements)

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“…3,15 However, the precise mechanisms might differ depending on the specific mutation at the RyR2 protein. [16][17][18] Herein we present an exhaustive characterization of a large CPVT family, stressing the electrocardiographic features of the disease. Moreover, in vitro insights from the mechanism of RyR2 R420Q channel dysfunction are provided.…”

Section: Introductionmentioning

confidence: 99%

Non-ventricular, Clinical, and Functional Features of the RyR2R420Q Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia

Domingo

Ñeco

Fernández-Pons

et al. 2015

Revista Española de Cardiología (English Edition)

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Section: Introductionmentioning

confidence: 99%

Non-ventricular, Clinical, and Functional Features of the RyR2R420Q Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia

Domingo

Ñeco

Fernández-Pons

et al. 2015

Revista Española de Cardiología (English Edition)

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“…Although the gene that codifies for RyR2 has only one copy in the human genome -located in chromosome 1, locus 1q43 26 -it contains 105 exons and is considered one of the largest genes found in our genome 27 . With 4967 residues per monomer, the functional hRYR2 (homotetramer) is the largest ion Figure 1.…”

Section: Involvement Of Ryr2 Missense Mutations In the Arrhythmogenicmentioning

confidence: 99%

“…Only a few numbers of RyR2 variants have been characterized at the molecular level; most of them generate ion channels with a gain-of-function that lead to out of control diastolic Ca 2+ leak 27,31 . The pathological consequence of an augmented diastolic Ca 2+ leak is that it would activate the Na + /Ca 2+ exchanger generating a net inward current that is causative of delayed afterdepolarizations (DADs), triggering additional RyR2 activation, and aftercontractions 32 .…”

Section: Involvement Of Ryr2 Missense Mutations In the Arrhythmogenicmentioning

confidence: 99%

Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia

Márquez¹,

Totomoch-Serra²,

Rueda³

et al. 2019

RIC

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although rare, CPVT should be considered in the differential diagnosis of young individuals with exercise-induced syncope. Mutations in five different genes (RYR2, CASQ2, CALM1, TRDN, and TECRL) are associated with the CPVT phenotype, although RYR2 missense mutations are implicated in up to 60 % of all CPVT cases. Genetic testing has an essential role in the diagnosis, management, pre-symptomatic diagnosis, counseling, and treatment of the proband; furthermore, genetic information can be useful for offspring and relatives. By expert consensus, CPVT gene testing is a Class I recommendation for patients with suspected CPVT. Beta-adrenergic and calcium-channel blockers are the cornerstones of treatment due to the catecholaminergic dependence of the arrhythmias. Unresponsive patients are treated with an implantable cardioverter-defibrillator to reduce the risk of sudden cardiac death. In the present article, a brief review of the genetic and molecular mechanisms of this intriguing disease is provided.

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“…Our main aim was to evaluate if the acute administration (from 0 to 60 min, incubation time) of CNPs will modify the properties of local Ca 2+ release events in intact rat cardiomyocytes, since any alteration in Ca 2+ handling may lead to dysfunction in the heart [8,9]; moreover, there is no report yet in this issue related to CNP effects on intracellular Ca 2+ regulation. Spontaneous and local Ca 2+ release events known as Ca 2+ sparks produced by the activation of an unknown number of ryanodine receptors located in a cluster are good indicators of the fine regulation of intracellular Ca 2+ and their parameters give us more details about global Ca 2+ signaling.…”

Section: Acute Effects Of Cnps In the Characteristics Of Local Ca 2+ ...mentioning

confidence: 99%

“…Ca 2+ release from sarcoplasmic reticulum (SR) as a result of activation of ryanodine receptors may occur in different forms, as local stochastic events known as Ca 2+ sparks which are building bricks for global Ca 2+ signals during cardiac contraction better known as Ca 2+ transients [7]. Alterations in the properties of these events may lead to fatal conditions like heart failure and arrhythmia [8,9]. Hence, we have evaluated the acute effects of CNPs in spontaneous Ca 2+ sparks of intact rat cardiomyocytes.…”

Section: Introductionmentioning

confidence: 99%

Acute Administration of Chitosan Nanoparticles Increases Ca<sup>2+</sup> Leak in Rat Cardiomyocytes

Narasimhan

Alba-Aguayo

Mondragón-Flores

et al. 2014

JNanoR

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Polymeric nanoparticles like chitosan nanoparticles may be used to deliver drugs to particular organs, such as heart. However, due to the lack of information about acute effects of chitosan nanoparticles in cardiac calcium handling, we evaluated the same in intact rat left ventricular myocytes. Chitosan nanoparticles were synthesized by ionic gelation method for three different concentrations of chitosan and tripolyphosphate (TPP) such as 1:1, 2:1 and 3:1, respectively. The size of the particles was below 100 nm for the 2:1 and 3:1 chitosan:TPP ratio and 300 nm for 1:1 ratio. The particles synthesized in 3:1 ratio were incubated for 0, 15, 30 and 60 minutes with Fluo-3 loaded cardiomyocytes, their effects were evaluated in local Ca2+ release events using confocal microscopy and compared with control cells. Chitosan nanoparticles increased the amplitude and size of Ca2+ spark by 14.1% and 24.1% at 30 minutes of incubation; while the increment was 24.7% and 28.4% at 60 minutes respectively. Accordingly, rising time of Ca2+ sparks was decreased by 47% at 30 minutes. These changes were reflected in increased local Ca2+ flux by 58.3% and spark-mediated Ca2+ leak by 145.9% and 146.5% at 30, and 60 minutes, respectively. Hence, these results indicate that chitosan nanoparticles modify the properties of local Ca2+ release events mainly at short incubation times and must be taken into account while using these nanoparticles in drug delivery.

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Ryanodine Receptor Channelopathies: The New Kid in the Arrhythmia Neighborhood

Cited by 5 publications

References 132 publications

Non-ventricular, Clinical, and Functional Features of the RyR2R420Q Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia

Non-ventricular, Clinical, and Functional Features of the RyR2R420Q Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia

Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia

Acute Administration of Chitosan Nanoparticles Increases Ca<sup>2+</sup> Leak in Rat Cardiomyocytes

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