Pathogenic Mitofusin 2 variants causing myopathy drive endosomal mtDNA release and inflammation
Mashiat Zaman, Joshua David, Ayshin Mehrabi, Cole Chute, Jingti Deng, Tyler Soule, Luke Wiseman, Costin N. Antonescu, Pina Colarusso, Gerald Pfeffer, Timothy E. Shutt
The paper identifies how pathogenic MFN2 variants cause mtDNA release into endosomes and mitochondrial-derived vesicles, triggering inflammation and myopathy, and suggests a therapeutic strategy using integrated stress response activation.
medRxiv · Sep 29, 2026 · PreprintGenetic & Genomic Medicine