Engineering mtDNA Deletions by Reconstituting End-Joining in Human Mitochondria
Yi Fu, Max Land, Tamar Kavlashvili, Ruobing Cui, Min‐Soo Kim, Emily DeBitetto, Toby Lieber, Keun Woo Ryu, Elim Choi, Ignas Masilionis, Rahul Saha, Meril T. Takizawa, Daphne Baker, Marco Tigano, Caleb A. Lareau, , Agnel J. Sfeir
This paper develops a method to engineer specific mtDNA deletions in human cells using end-joining machinery and targeted endonucleases, revealing a 75% heteroplasmy threshold for mitochondrial dysfunction.
Cell · May 1, 2025Peer-reviewedMolecular Biology