scholarly journals Derivation and cardiomyocyte differentiation of induced pluripotent stem cells from heart failure patients

2012 ◽  
Vol 34 (21) ◽  
pp. 1575-1586 ◽  
Author(s):  
Limor Zwi-Dantsis ◽  
Irit Huber ◽  
Manhal Habib ◽  
Aaron Winterstern ◽  
Amira Gepstein ◽  
...  
Keyword(s):  
Heart Failure ◽  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Cardiomyocyte Differentiation ◽  
Heart Failure Patients ◽  
Induced Pluripotent

15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection

2020 ◽  
pp. jmedgenet-2019-106608
Author(s):  
Xiaoliang Li ◽  
Guocheng Shi ◽  
Yang Li ◽  
Xiaoqing Zhang ◽  
Ying Xiang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Mononuclear Cells ◽  
Chromosomal Microarray ◽  
Cardiomyocyte Differentiation ◽  
Induced Pluripotent ◽  
Anomalous Pulmonary Venous Connection ◽  
15Q11.2 Deletion

IntroductionCNV is a vital pathogenic factor of congenital heart disease (CHD). However, few CNVs have been reported for total anomalous pulmonary venous connection (TAPVC), which is a rare form of CHD. Using case-control study, we identified 15q11.2 deletion associated with TAPVC. We then used a TAPVC trio as model to reveal possible molecular basis of 15q11.2 microdeletion.MethodsCNVplex and Chromosomal Microarray were used to identify and validate CNVs in samples from 231 TAPVC cases and 200 healthy controls from Shanghai Children’s Medical Center. In vitro cardiomyocyte differentiation of induced pluripotent stem cells from peripheral blood mononuclear cells for a TAPVC trio with paternal inherited 15q11.2 deletion was performed to characterise the effect of the deletion on cardiomyocyte differentiation and gene expression.ResultsThe 15q11.2 microdeletion was significantly enriched in patients with TAPVC compared with healthy control (13/231 in patients vs 0/200 in controls, p=5.872×10−2, Bonferroni adjusted) using Fisher’s exact test. Induced pluripotent stem cells from the proband could not differentiate into normal cardiomyocyte. Transcriptomic analysis identified a number of differentially expressed genes in the 15q11.2 deletion carriers of the family. TAPVC disease-causing genes such as PITX2, NKX2-5 and ANKRD1 showed significantly higher expression in the proband compared with her healthy mother. Knockdown of TUBGCP5 could lead to abnormal cardiomyocyte differentiation.ConclusionWe discovered that the 15q11.2 deletion is significantly associated with TAPVC. Gene expression profile that might arise from 15q11.2 deletion for a TAPVC family was characterised using cell experiments.

Multimodal Imaging for In Vivo Evaluation of Induced Pluripotent Stem Cells in a Murine Model of Heart Failure

2016 ◽  
Vol 41 (2) ◽  
pp. 192-199 ◽  
Author(s):  
Sebastian V. Rojas ◽  
Martin Meier ◽  
Robert Zweigerdt ◽  
Dominik Eckardt ◽  
Christian Rathert ◽  
...  
Keyword(s):  
Heart Failure ◽  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Murine Model ◽  
Pluripotent Stem Cells ◽  
Multimodal Imaging ◽  
In Vivo Evaluation ◽  
Induced Pluripotent

scholarly journals Human-induced pluripotent stem cells for modelling metabolic perturbations and impaired bioenergetics underlying cardiomyopathies

2020 ◽  
Author(s):  
Chrishan J A Ramachandra ◽  
Jasper Chua ◽  
Shuo Cong ◽  
Myu Mai Ja Kp ◽  
Winston Shim ◽  
...  
Keyword(s):  
Heart Failure ◽  
Stem Cells ◽  
Health Outcomes ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Mitochondrial Bioenergetics ◽  
Metabolic Disturbances ◽  
Atp Production ◽  
Induced Pluripotent

Abstract Normal cardiac contractile and relaxation functions are critically dependent on a continuous energy supply. Accordingly, metabolic perturbations and impaired mitochondrial bioenergetics with subsequent disruption of ATP production underpin a wide variety of cardiac diseases, including diabetic cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, anthracycline cardiomyopathy, peripartum cardiomyopathy, and mitochondrial cardiomyopathies. Crucially, there are no specific treatments for preventing the onset or progression of these cardiomyopathies to heart failure, one of the leading causes of death and disability worldwide. Therefore, new treatments are needed to target the metabolic disturbances and impaired mitochondrial bioenergetics underlying these cardiomyopathies in order to improve health outcomes in these patients. However, investigation of the underlying mechanisms and the identification of novel therapeutic targets have been hampered by the lack of appropriate animal disease models. Furthermore, interspecies variation precludes the use of animal models for studying certain disorders, whereas patient-derived primary cell lines have limited lifespan and availability. Fortunately, the discovery of human-induced pluripotent stem cells has provided a promising tool for modelling cardiomyopathies via human heart tissue in a dish. In this review article, we highlight the use of patient-derived iPSCs for studying the pathogenesis underlying cardiomyopathies associated with metabolic perturbations and impaired mitochondrial bioenergetics, as the ability of iPSCs for self-renewal and differentiation makes them an ideal platform for investigating disease pathogenesis in a controlled in vitro environment. Continuing progress will help elucidate novel mechanistic pathways, and discover novel therapies for preventing the onset and progression of heart failure, thereby advancing a new era of personalized therapeutics for improving health outcomes in patients with cardiomyopathy.

scholarly journals Comparison of Cardiomyocyte Differentiation Potential between Type 1 Diabetic Donor- and Nondiabetic Donor-Derived Induced Pluripotent Stem Cells

2015 ◽  
Vol 24 (12) ◽  
pp. 2491-2504 ◽  
Author(s):  
Chika Kikuchi ◽  
Martin Bienengraeber ◽  
Scott Canfield ◽  
Andrew Koopmeiner ◽  
Richard Schäfer ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Cardiomyocyte Differentiation ◽  
Differentiation Potential ◽  
Induced Pluripotent
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