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6 results for “SCN10A”
Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants
<p class="MsoNormal"><span>We illustrate the use of induced pluripotent stem cells (iPSCs) as platforms for investigating cardiomyocyte phenotypes in a human family pedigree exemplified by novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants occurring alone and in combination. The proband, a four-month-old boy, presented with </span><span>polymorphic</span><span> ventricular tachycardia (</span><span>P</span><span>VT). Genetic tests revealed double novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants inherited from his father (F) and mother (M) respectively. His father showed ventricular premature beats (VPB); his mother was asymptomatic. Molecular biological characterisations demonstrated greater <em>TNNT2</em> mRNA expression in the iPSCs-induced cardiomyocytes (iPS-CMs) than in the iPSCs</span><span>.</span><span> </span><span>c</span><span>TNTs became progressively organised, but cytoplasmic RYR2 and SCN10A aggregations occurred in the iPS-CMs. Proband-specific iPS-CMs showed decreased <em>RYR2</em> and <em>SCN10A</em> mRNA expression. The RYR2-A1855D variant resulted in premature spontaneous sarcoplasmic reticular (SR) Ca<sup>2+</sup> transients (PCTs), Ca<sup>2+</sup> oscillations (COs), and increased action potential durations (APDs). SCN10A-Q1362H did not confer any specific phenotype. However, the </span><span>combined </span><span>heterozygous RYR2-A1855D and SCN10A-Q1362H variants in the proband iPS-CMs resulted in accentuated Ca<sup>2+</sup> homeostasis disorders, AP prolongation and susceptibility to early afterdepolarisations (EADs) at high stimulus frequencies. These findings attribute the clinical phenotype in the proband to effects of the heterozygous <em>RYR2</em> variant exacerbated by heterozygous <em>SCN10A</em> modification. </span></p>
Patient-specific induced pluripotent stem cell properties implicate Ca2+-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants
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An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo
GEO Series GSE129067. Mus musculus. 24 samples. Type: Expression profiling by high throughput sequencing; Other.
An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo (RNA-Seq)
GEO Series GSE123440. Mus musculus. 6 samples. Type: Expression profiling by high throughput sequencing.
An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo (Hi-C)
GEO Series GSE129062. Mus musculus. 18 samples. Type: Other.
Data set from Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. PMID: 31292628.
<p>Data set from Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. PMID: 31292628.</p> <p> </p> <p>This is the abstract:</p> <p><strong>Aims: </strong>The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres.</p> <p><strong>Methods and results: </strong>Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants.</p> <p><strong>Conclusion: </strong>Future studies are warranted to further characterize the role of these specific SCN10A variants.</p> <p> </p>
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