Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precisi
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INVITED REVIEW
Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine Ziwei Pan 1,2 & Antje Ebert 3,4 & Ping Liang 1,2 Received: 21 August 2020 / Revised: 14 October 2020 / Accepted: 22 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Rare cardiovascular diseases (RCDs) refer to those cardiovascular diseases that display a low prevalence as well as morbidity. Due to the vast variety of underlying genetic mutations and the relatively low patient population, RCDs present additional challenges for diagnosis. Precision medicine may offer opportunities for designing patient-specific therapies in particular for carriers of variants with undetermined significance. Moreover, precision medicine strategies provide benefit to patients with “common” symptoms but carry in rare genetic variants. Induced pluripotent stem cells (iPSCs) present a state-of-the-art precision medicine approach which recently made contributions to the study of RCDs via patient-specific iPSC-derived cardiomyocytes (iPSC-CMs). Human iPSC-CMs are derived from a patient’s somatic cells and thus recapitulate a personalized genomics background, serving as patient-specific disease models. In light of these advantages, iPSC-CMs evolved as an effective tool for modeling cardiac disease phenotypes and accurately evaluating the toxicity of potential therapeutic compounds. This review covers approaches for studying RCDs and iPSC-CM models generated so far for different RCDs, such as long QT syndrome (LQT), short QT syndrome (SQT), Brugada syndrome (BrS), arrhythmogenic right ventricular cardiomyopathy (ARVC), and other rare diseases accomplished by cardiac-related syndromes like Fabry disease (FD) and Marfan syndrome (MFS). This overview aims to aid better understanding of the utility of iPSC-CM models, their various features, and future prospects. Keywords Rare cardiovascular diseases . Precision medicine . iPSC-derived cardiomyocytes . iPSC models
Introduction
This article is part of the special issue on Recent Progress with hPSCs for Drug Discovery in Pflügers Archiv—European Journal of Physiology * Ping Liang [email protected] 1
Key Laboratory of combined Multi-organ Transplantation, Ministry of Public Health, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China
2
Institute of Translational Medicine, Zhejiang University, 268 Kaixuan Road, North Block of the Central Building, Room 404, Hangzhou 310029, China
3
Heart Center, Department of Cardiology and Pneumology, Goettingen University, Robert-Koch-Str. 40, 37075 Goettingen, Germany
4
DZHK (German Center for Cardiovascular Research), partner site Goettingen, Goettingen, Germany
Rare diseases, also called orphan diseases, refer to lowincidence diseases characterized by low morbidity, severity of condition, as well as difficulty in diagnosis and treatment. There are currently 7000 known rare diseases [75], affecting about 350 million people [66]. In
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