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- W2912453390 abstract "Brugada Syndrome (BrS) is a cardiac arrhythmogenic disease that predisposes to sudden cardiac death. It is associated with mutations in the SCN5A gene, encoding the cardiac sodium channel alpha subunit (NaV1.5). We investigated a single nucleotide variation (SNV) in the SCN5A gene (c. 4573 G>A; NaV1.5_p. V1525M), associated to BrS. This SNV is located in a highly conserved region of the cytoplasmic loop connecting domains 3 and 4. Our objective was to determine the sodium current (INa) properties of induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) obtained from two mutation carriers from the same family. We also studied the SNV in heterologous expression in tsA201 cells (NaV1.5V1525M). Dermal fibroblasts from patients and a non-related healthy control were reprogrammed to iPSc. Clones were characterized and differentiated to form iPS-CM beating monolayers. tsA201 cells were transfected to express NaV1.5V1525M and compared with the wild type NaV1.5 (NaV1.5WT). Sodium currents were studied using the whole-cell patch clamp technique. Our results showed a strong effect of the SNV on iPS-CM INa density. A total loss of INa was observed in a high percentage of the cells recorded from both patients (77%, n=43 and 67%, n=34 respectively). In the remaining cells for which we could record INa, we observed a 79.4% (n=7) and an 83.6% (n=11) reduction in INa density, compared with the control (n=40). The total loss of INa was not observed in tsA201 cells expressing NaV1.5V1525M. INa reduction was 53.1%, NaV1.5V1525Mvs. NaV1.5WT cells (n=19 and 23, respectively). Overall, our results show a strong loss-of-function of NaV1.5 in patients’ iPS-CM, which could not be observed using heterologous expression systems. This strongly suggests that the NaV1.5_V1525M may exert a dominant negative effect." @default.
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- W2912453390 date "2019-02-01" @default.
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- W2912453390 title "Cardiac Sodium Current is Severely Impaired in Induced Pluripotent Stem Cell-Derived Cardiomyocytes from Brugada Syndrome Patients" @default.
- W2912453390 doi "https://doi.org/10.1016/j.bpj.2018.11.2114" @default.
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