Yeranuhi Hovhannisyan, Zhenlin Li, Domitille Callon, Rodolphe Suspène, Vivien Batoumeni, Alexis Canette, Jocelyne Blanc, Hakim Hocini, Cécile Lefebvre, Nora El-Jahrani, Maria Kitsara, Aurore L'honoré, Ekaterini Kordeli, Paul Fornes, Jean-Paul Concordet, Gérard Tachdjian, Anne-Marie Rodriguez, Jean-Pierre Vartanian, Anthony Béhin, Karim Wahbi, Pierre Joanne, Onnik Agbulut
BACKGROUND: Beyond the observed alterations in cellular structure and mitochondria, the mechanisms linking rare genetic mutations to the development of heart failure in patients affected by desmin mutations remain unclear due in part, to the lack of relevant human cardiomyocyte models. METHODS: To shed light on the role of mitochondria in these mechanisms, we investigated cardiomyocytes derived from human induced pluripotent stem cells carrying the heterozygous DESE439K mutation that were either isolated from a patient or generated by gene editing...
January 2, 2024: Stem Cell Research & Therapy