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

被引:30
|
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
相关论文
共 50 条
  • [1] Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes
    El-Battrawy, Ibrahim
    Lan, Huan
    Cyganek, Lukas
    Zhao, Zhihan
    Li, Xin
    Buljubasic, Fanis
    Lang, Siegfried
    Yucel, Gokhan
    Sattler, Katherine
    Zimmermann, Wolfram-Hubertus
    Utikal, Jochen
    Wieland, Thomas
    Ravens, Ursula
    Borggrefe, Martin
    Zhou, Xiao-Bo
    Akin, Ibrahim
    JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2018, 7 (07):
  • [2] Human-induced pluripotent stem cell-derived cardiomyocytes to study PUFA analogues as a potential treatment of long QT syndrome
    de la Cruz, Alicia
    Dykxhoorn, Derek M.
    Barro-Soria, Rene
    Agarwal, Ashutosh
    Larsson, Peter H.
    BIOPHYSICAL JOURNAL, 2023, 122 (03) : 253A - 253A
  • [3] Modelling the long QT syndrome with induced pluripotent stem cells
    Ilanit Itzhaki
    Leonid Maizels
    Irit Huber
    Limor Zwi-Dantsis
    Oren Caspi
    Aaron Winterstern
    Oren Feldman
    Amira Gepstein
    Gil Arbel
    Haim Hammerman
    Monther Boulos
    Lior Gepstein
    Nature, 2011, 471 : 225 - 229
  • [4] Modelling the long QT syndrome with induced pluripotent stem cells
    Itzhaki, Ilanit
    Maizels, Leonid
    Huber, Irit
    Zwi-Dantsis, Limor
    Caspi, Oren
    Winterstern, Aaron
    Feldman, Oren
    Gepstein, Amira
    Arbel, Gil
    Hammerman, Haim
    Boulos, Monther
    Gepstein, Lior
    NATURE, 2011, 471 (7337) : 225 - U113
  • [5] Longitudinal metabolic profiling of cardiomyocytes derived from human-induced pluripotent stem cells
    Bekhite, Mohamed M.
    Delgado, Andres Gonzalez
    Menz, Florian
    Kretzschmar, Tom
    Wu, Jasmine M. F.
    Bekfani, Tarek
    Nietzsche, Sandor
    Wartenberg, Maria
    Westermann, Martin
    Greber, Boris
    Schulze, P. Christian
    BASIC RESEARCH IN CARDIOLOGY, 2020, 115 (04)
  • [6] Longitudinal metabolic profiling of cardiomyocytes derived from human-induced pluripotent stem cells
    Mohamed M. Bekhite
    Andrés González Delgado
    Florian Menz
    Tom Kretzschmar
    Jasmine M. F. Wu
    Tarek Bekfani
    Sandor Nietzsche
    Maria Wartenberg
    Martin Westermann
    Boris Greber
    P. Christian Schulze
    Basic Research in Cardiology, 2020, 115
  • [7] Effects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytes
    Kuusela, Jukka
    Kujala, Ville J.
    Kiviaho, Anna
    Ojala, Marisa
    Swan, Heikki
    Kontula, Kimmo
    Aalto-Setala, Katriina
    SPRINGERPLUS, 2016, 5 : 1 - 13
  • [8] Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation
    Matsa, Elena
    Rajamohan, Divya
    Dick, Emily
    Young, Lorraine
    Mellor, Ian
    Staniforth, Andrew
    Denning, Chris
    EUROPEAN HEART JOURNAL, 2011, 32 (08) : 952 - 962
  • [9] DRUG EVALUATION IN CARDIOMYOCYTES DERIVED FROM HUMAN INDUCED PLURIPOTENT STEM CELLS CARRYING A LONG QT SYNDROME TYPE 2 MUTATION
    Matsa, E.
    Rajamohan, D.
    Dick, E.
    Young, L.
    Mellor, I.
    Staniforth, A.
    Denning, C.
    HEART, 2011, 97 (20) : 8 - 8
  • [10] Functional coculture of sympathetic neurons and cardiomyocytes derived from human-induced pluripotent stem cells
    Winbo, Annika
    Ramanan, Suganeya
    Eugster, Emily
    Jovinge, Stefan
    Skinner, Jonathan R.
    Montgomery, Johanna M.
    AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 2020, 319 (05): : H927 - H937