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Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells

Long QT syndrome (LQTS) is a potentially severe arrhythmogenic disorder, associated with a prolonged QT interval and sudden death, caused by mutations in key genes regulating cardiac electrophysiology. Current strategies to study LQTS in vitro include heterologous systems or animal models. Despite t...

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Detalles Bibliográficos
Autores principales: Sala, Luca, Gnecchi, Massimiliano, Schwartz, Peter J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Radcliffe Cardiology 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528025/
https://www.ncbi.nlm.nih.gov/pubmed/31114684
http://dx.doi.org/10.15420/aer.2019.1.1
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author Sala, Luca
Gnecchi, Massimiliano
Schwartz, Peter J
author_facet Sala, Luca
Gnecchi, Massimiliano
Schwartz, Peter J
author_sort Sala, Luca
collection PubMed
description Long QT syndrome (LQTS) is a potentially severe arrhythmogenic disorder, associated with a prolonged QT interval and sudden death, caused by mutations in key genes regulating cardiac electrophysiology. Current strategies to study LQTS in vitro include heterologous systems or animal models. Despite their value, the overwhelming power of genetic tools has exposed the many limitations of these technologies. In 2010, human-induced pluripotent stem cells (hiPSCs) revolutionised the field and allowed scientists to study in vitro some of the disease traits of LQTS on hiPSC-derived cardiomyocytes (hiPSC-CMs) from LQTS patients. In this concise review we present how the hiPSC technology has been used to model three main forms of LQTS and the severe form of LQTS associated with mutations in calmodulin. We also introduce some of the most recent challenges that must be tackled in the upcoming years to successfully shift hiPSC-CMs from powerful in vitro disease modelling tools into assets to improve risk stratification and clinical decision-making.
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spelling pubmed-65280252019-05-21 Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells Sala, Luca Gnecchi, Massimiliano Schwartz, Peter J Arrhythm Electrophysiol Rev Clinical Arrhythmias Long QT syndrome (LQTS) is a potentially severe arrhythmogenic disorder, associated with a prolonged QT interval and sudden death, caused by mutations in key genes regulating cardiac electrophysiology. Current strategies to study LQTS in vitro include heterologous systems or animal models. Despite their value, the overwhelming power of genetic tools has exposed the many limitations of these technologies. In 2010, human-induced pluripotent stem cells (hiPSCs) revolutionised the field and allowed scientists to study in vitro some of the disease traits of LQTS on hiPSC-derived cardiomyocytes (hiPSC-CMs) from LQTS patients. In this concise review we present how the hiPSC technology has been used to model three main forms of LQTS and the severe form of LQTS associated with mutations in calmodulin. We also introduce some of the most recent challenges that must be tackled in the upcoming years to successfully shift hiPSC-CMs from powerful in vitro disease modelling tools into assets to improve risk stratification and clinical decision-making. Radcliffe Cardiology 2019-05 /pmc/articles/PMC6528025/ /pubmed/31114684 http://dx.doi.org/10.15420/aer.2019.1.1 Text en Copyright © 2019, Radcliffe Cardiology https://creativecommons.org/licenses/by-nc/4.0/legalcode This work is open access under the CC-BY-NC 4.0 License which allows users to copy, redistribute and make derivative works for non-commercial purposes, provided the original work is cited correctly.
spellingShingle Clinical Arrhythmias
Sala, Luca
Gnecchi, Massimiliano
Schwartz, Peter J
Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells
title Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells
title_full Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells
title_fullStr Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells
title_full_unstemmed Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells
title_short Long QT Syndrome Modelling with Cardiomyocytes Derived from Human-induced Pluripotent Stem Cells
title_sort long qt syndrome modelling with cardiomyocytes derived from human-induced pluripotent stem cells
topic Clinical Arrhythmias
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528025/
https://www.ncbi.nlm.nih.gov/pubmed/31114684
http://dx.doi.org/10.15420/aer.2019.1.1
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