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

被引:32
作者
Sala, Luca [1 ]
Gnecchi, Massimiliano [2 ,3 ,4 ,5 ]
Schwartz, Peter J. [1 ,6 ,7 ]
机构
[1] IRCCS, Ist Auxol Italiano, Lab Cardiovasc Genet, Milan, Italy
[2] IRCCS Policlin San Matteo Fdn, Coronary Care Unit, Pavia, Italy
[3] IRCCS Policlin San Matteo Fdn, Lab Expt Cardiol Cell & Mol Therapy, Pavia, Italy
[4] Univ Pavia, Dept Mol Med, Unit Cardiol, Pavia, Italy
[5] Univ Cape Town, Dept Med, Cape Town, South Africa
[6] IRCCS, Ctr Cardiac Arrhythmias Genet Origin, Ist Auxol Italiano, Milan, Italy
[7] Univ Cape Town, Hatter Inst Cardiovasc Res Africa, Dept Med, Cardiovasc Genet Lab, Cape Town, South Africa
基金
欧盟地平线“2020”;
关键词
Long QT syndrome; cardiac arrhythmias; stem cells; human-induced pluripotent stem cells; cardiomyocytes; precision medicine; life-threatening arrhythmias; sudden cardiac death; LANGE-NIELSEN-SYNDROME; FUNCTIONAL MATURATION; IN-VITRO; PATIENT; MUTATIONS; PHENOTYPE; GENERATION; TRAFFICKING; GENETICS; MODIFIER;
D O I
10.15420/aer.2019.1.1
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:105 / 110
页数:6
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