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Articles

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy

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By Annika Zink, Dao-Fu Dai, Annika Wittich, Marie-Thérèse Henke, Giulia Pedrotti, Sonja Heiduschka, Guillem Santamaria, Tancredi Massimo Pentimalli, Christian Brueser, Sofia Notopoulou, Abdul Rahim Umar, Aleksandra Zhaivoron, Laura Petersilie, Caleb Jerred, Fabian Schumacher, Jan Keller-Findeisen, Agnieszka Rybak-Wolf, Daniel Stach, Jeanette Reinshagen, Undine Haferkamp, Andrea Zaliani, Liliya Euro, Alessia Di Donfrancesco, Enrica Cappellozza, Marta Suarez Cubero, Mario G. Pavez-Giani, David Meierhofer, Alan Foley Verified, Diran Herebian, Monica Moresco, Alessandra Maresca, Ilaria Decimo, Francesco De Sanctis, Annalisa Adamo, Roberto Duchi, Andrea Perota, Cesare Galli, Burkhard Kleuser, Lukas Cyganek, Chris Mühlhausen, Lars Schlotawa, Valeria Tiranti, Ertan Mayatepek, Ildikò Szabò, Chiara La Morgia, Thomas Klopstock, Valerio Carelli, Felix Distelmaier, Andrea Rossi, Nikolaus Rajewsky, Ghanim Ullah, Stefan Jakobs, Christine Rose, Spyros Petrakis, Frank Edenhofer, Werner J.H. Koopman, Pawel Lisowski, Anu Suomalainen, Dario Brunetti, Antonio del Sol, Emanuela Bottani, Ole Pless, Markus Schuelke, Alessandro Prigione, Jesper Bergmans, Louis Anton Neu, Kim Krieg, Chiara Santanatoglia, Oleh Bakumenko, Susanne Morales-Gonzalez, Isabella Tolle, Daniele Bonesso, Giulia Cecchetto, Sakurako Nagumo Wong, Merel J.W. Adjobo-Hermans, Maria Barandalla, Marco Scaglia
| Cell Press Verified
Results To determine whether MMP hyperpolarization observed in LS NPCs carrying the m.9185T>C variant in the MT-ATP6 gene27 represented a robust phenotype, we generated NPCs from 7 LS patients carrying different MT-ATP6 variants (3 m.9185T>C, 1 m.8993T>C, 2 m.8993T>G, and one m.9176T>G) (Figure S1A).27,33,34,35,36 For controls, we used NPCs from 8 healthy individuals, including 2 patients’ mothers carrying MT-ATP6 variants at low heteroplasmy (<2%) (Figure S10H).
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