Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation
Denisa Hathazi, Camilla Lyons, Daniel Lagos, Oliver Podmanicky, Mariana Zarate-Mendez, Yu Nie, Juliane S Müller, Kieren Simon James Allinson, Huw W. Naylor, Majlinda Lako, İbrahim Elsharkawi, Irena Josephina Johanna Muffels, Éva Morava, Tamás Kozicz, Patrick Francis Chinnery, , Rita Horváth
This study shows that high mitochondrial DNA heteroplasmy in human organoids with the m.3243A>G mutation causes cortical neuronal disturbances, including axonal degeneration and apoptosis, similar to MELAS patients.
DOAJ (DOAJ: Directory of Open Access Journals) · Jun 21, 2026Peer-reviewedNeuroscience