NeuroscienceDOAJ (DOAJ: Directory of Open Access Journals)Peer-reviewed
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation
Denisa Hathazi, Camilla Lyons, Daniel Lagos…·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.
DOI 10.1038/s41467-026-74103-y