Induced pluripotent stem cells of patients with Tetralogy of Fallot reveal transcriptional alterations in cardiomyocyte differentiation

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Marcel Grunert - , Charité – Universitätsmedizin Berlin, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Autor:in)
  • Sandra Appelt - , Charité – Universitätsmedizin Berlin, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Autor:in)
  • Sophia Schönhals - , Charité – Universitätsmedizin Berlin, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK), Freie Universität (FU) Berlin (Autor:in)
  • Kerstin Mika - , Charité – Universitätsmedizin Berlin (Autor:in)
  • Huanhuan Cui - , Charité – Universitätsmedizin Berlin, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Autor:in)
  • Ashley Cooper - , Charité – Universitätsmedizin Berlin (Autor:in)
  • Lukas Cyganek - , Georg-August-Universität Göttingen (Autor:in)
  • Kaomei Guan - , Institut für Pharmakologie und Toxikologie, Universitätsmedizin Göttingen, Georg-August-Universität Göttingen, Technische Universität Dresden (Autor:in)
  • Silke R. Sperling - , Charité – Universitätsmedizin Berlin, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK), Freie Universität (FU) Berlin (Autor:in)

Abstract

Patient-specific induced pluripotent stem cells (ps-iPSCs) and their differentiated cell types are a powerful model system to gain insight into mechanisms driving early developmental and disease-associated regulatory networks. In this study, we use ps-iPSCs to gain insights into Tetralogy of Fallot (TOF), which represents the most common cyanotic heart defect in humans. iPSCs were generated and further differentiated to cardiomyocytes (CMs) using standard methods from two well-characterized TOF patients and their healthy relatives serving as controls. Patient-specific expression patterns and genetic variability were investigated using whole genome and transcriptome sequencing data. We first studied the clonal mutational burden of the derived iPSCs. In two out of three iPSC lines of patient TOF-01, we found a somatic mutation in the DNA-binding domain of tumor suppressor P53, which was not observed in the genomic DNA from blood. Further characterization of this mutation showed its functional impact. For patient TOF-02, potential disease-relevant differential gene expression between and across cardiac differentiation was shown. Here, clear differences at the later stages of differentiation could be observed between CMs of the patient and its controls. Overall, this study provides first insights into the complex molecular mechanisms underlying iPSC-derived cardiomyocyte differentiation and its transcriptional alterations in TOF.

Details

OriginalspracheEnglisch
Aufsatznummer10921
FachzeitschriftScientific reports
Jahrgang10
Ausgabenummer1
PublikationsstatusVeröffentlicht - 1 Dez. 2020
Peer-Review-StatusJa

Externe IDs

PubMed 32616843

Schlagworte

ASJC Scopus Sachgebiete