Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells
Abstract
:1. Introduction
2. Case Description
2.1. Clinical Evaluation
2.2. Genetic Investigation
2.3. Generation of pLenti-EF1alpha-SCN5A-GFP p.E1225D Lentiviral Vector
2.4. Lentiviral Particles Production and Cardiomyocytes Transduction
2.5. Human Pluripotent Stem Cells Maintenance and Differentiation
2.6. Functional Characterization: Assessment of INa Currents by Patch-Clamp
2.7. Clinical Case
2.7.1. Clinical Features
2.7.2. Genetic Testing Result
2.7.3. Functional Testing Indicates Reduced Peak Sodium Currents in CMs Overexpressing p.E1225K Nav1.5 Channel
3. Discussion
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Salvarani, N.; Peretto, G.; Silvia, C.; Villatore, A.; Thairi, C.; Santoni, A.; Galli, C.; Carrera, P.; Sala, S.; Benedetti, S.; et al. Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells. Int. J. Mol. Sci. 2023, 24, 9548. https://doi.org/10.3390/ijms24119548
Salvarani N, Peretto G, Silvia C, Villatore A, Thairi C, Santoni A, Galli C, Carrera P, Sala S, Benedetti S, et al. Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells. International Journal of Molecular Sciences. 2023; 24(11):9548. https://doi.org/10.3390/ijms24119548
Chicago/Turabian StyleSalvarani, Nicolò, Giovanni Peretto, Crasto Silvia, Andrea Villatore, Cecilia Thairi, Anna Santoni, Camilla Galli, Paola Carrera, Simone Sala, Sara Benedetti, and et al. 2023. "Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells" International Journal of Molecular Sciences 24, no. 11: 9548. https://doi.org/10.3390/ijms24119548