Cell-type-specific adaptations to mitochondrial stress underly the neurological presentations of MTRFR mutations
Mariana Zarate-Mendez, Kaela O’Connor, Natalia Malig, Oliver Podmanicky, Julia Kleniuk, Sally Spendiff, Evan Reid, Hanns Lochmüller, Denisa Hathazi, Rita Horváth
This study identifies cell-type-specific adaptations to mitochondrial stress in MTRFR mutations, showing cortical neurons activate survival programs while motor neurons undergo apoptosis.
bioRxiv · Dec 31, 2025 · PreprintNeuroscience