Distinct mitochondrial DNA single-nucleotide variant signatures in TOP3A-deficient cardiomyocytes
Marianne Gaubert, Halima Alachram, Ipek Ilgin Gönenç, Iñigo Domínguez, Carolin Argyriou, Julia Schmidt, Silke Kaulfuß, Mario Pávez, Constantin Tilman Schott, Axel Munk, Arne Zibat, Lukas Cyganek, Gökhan Yigit, Bernd Wollnik
This study identifies unique mtDNA mutation patterns in TOP3A-deficient cardiomyocytes, linking mtDNA instability to mitochondrial dysfunction in cardiac disease.
bioRxiv · Aug 22, 2026 · PreprintGenetics