Induced pluripotent stem cells in the inherited cardiomyopathies: From disease mechanisms to novel therapies

被引：19

作者：

Ross, Samantha Barratt ^{[1
,2
]}

Fraser, Stuart T. ^{[3
,4
,5
]}

Semsarian, Christopher ^{[1
,2
,6
]}

机构：

[1] Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Locked Bag 6, Newtown, NSW 2042, Australia

[2] Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia

[3] Univ Sydney, Sch Med Sci, Discipline Physiol, Sydney, NSW, Australia

[4] Univ Sydney, Sch Med Sci, Discipline Anat, Sydney, NSW, Australia

[5] Univ Sydney, Sch Med Sci, Discipline Histol, Sydney, NSW, Australia

[6] Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia

来源：

TRENDS IN CARDIOVASCULAR MEDICINE | 2016年 / 26卷 / 08期

基金：

英国医学研究理事会;

关键词：

Cardiomyopathy; Genetic; Induced pluripotent stem cell; Inherited; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; RIGHT-VENTRICULAR CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; MOUSE MODEL; CARDIOMYOCYTES; GENETICS; PERSPECTIVES; MATURATION;

D O I：

10.1016/j.tcm.2016.05.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited cardiomyopathies lead to diverse clinical outcomes including heart failure, arrhythmias, and sudden death. Mutations in over 100 genes have been implicated in the pathogenesis of genetic heart diseases, including the main inherited cardiomyopathies, such as hypertrophic, dilated, and arrhythmogenic right ventricular cardiomyopathies. Understanding how these gene mutations lead to clinical disease and the various secondary genetic and environmental factors, which may modify the clinical phenotype, are key areas of research ultimately influencing diagnosis and management of patients. The emergence of patient-derived induced pluripotent stem cells (iPSCs), which can be differentiated into functional cardiomyocytes (CMs) in vitro, may provide an exciting new approach to understand disease mechanisms underpinning inherited heart diseases. This review will focus specifically on the key role of iPSC-based studies in the inherited cardiomyopathies, both in their potential utility as well as the significant challenges they present.

引用

页码：663 / 672

页数：10

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