Transregional Collaborative Research Centre 152

Breadcrumb Navigation


P17 - Patient-specific induced pluripotent stem cell models to elucidate the role of TRP channels in the pathogenesis of CPVT1 and of PFHBI

Using reprogrammed pluripotent stem cells (iPSCs) and live cell imaging we aim to investigate the dual role of TRP channels in the disease phenotype of an inherited arrhythmogenic human cardiac disorder (catecholaminergic polymorphic ventricular tachycardia – CPVT1), which results from aberrant intracellular Ca2+ handling emanating from a defective RyR2 protein, and a familial conduction disease of the His-Purkinje system (progressive familial heart block type I – PFHBI) which has been recently associated with gain-of-function mutations in the TRPM4 gene.




Figure. Patient-specific induced pluripotent stem cells (iPSCs) can be derived directly from patient somatic cells (e.g., skin fibroblasts or blood cells) by different reprogramming methods. They can be differentiated in vitro into all kinds of cardiac cells (cardiac myocytes, cells of the conductive system, smooth muscle cells, and endothelial cells) through a cardiovascular progenitor population. Differentiated cardiac cells can then be used in disease modeling to understand the molecular mechanisms underlying disease phenotypes and in drug screening to determine the effects of candidate drugs or new compounds and identify target pathways. Examples of different cellular readouts are presented.

Karl-Ludwig Laugwitz

Prof. Dr. Karl-Ludwig Laugwitz

Technical University of Munich (TUM)

+49 89 4140 6907

Peter Lipp

Prof. Dr. Peter Lipp

Saarland University

+49 6841 162 6103

Alessandra Moretti

Prof. Dr. Alessandra Moretti

Technical University of Munich (TUM)

+49 89 4140 6907