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Atad3 is Essential for Mitochondrial Permeability Transition Pore Opening and Cardiac Ischemia Reperfusion Injury.

Robichaux, D.; Lopez, S. J.; Mendoza, A.; Ramirez, D.; Lin, S.-C. J.; Molkentin, J. D.; Peixoto, P. M.; Karch, J. M.

2025-06-17 cell biology
10.1101/2025.06.13.658955 bioRxiv
Show abstract

The molecular identity of the mitochondrial permeability transition pore (mPTP) has remained elusive since the discovery of its existence over 75 years ago. Despite the numerous candidate proteins proposed, none have withstood genetic ablation, leaving them relegated to auxiliary regulatory roles. To date, no essential mPTP component has been identified. Here, we establish ATAD3 as the first essential component of the mPTP. Genetic deletion of Atad3 in cardiomyocytes and hepatocytes renders heart and liver mitochondria incapable of undergoing Ca2+-induced mPTP-dependent swelling. Moreover, these mitochondria exhibit the highest Ca2+ retention capacity ever reported following genetic perturbation of the mPTP. Furthermore, patch-clamp recordings of recombinant ATAD3a in liposomes reveal intrinsic channel activity. Given the established role of mPTP-dependent necrosis in driving ischemia/reperfusion (I/R) injury, we show that cardiac-specific Atad3 deletion markedly reduces infarct size following I/R, with no additive protection from cyclosporine A. Together, these findings establish ATAD3 as an core, putative pore-forming component essential for mPTP opening and mPTP-dependent necrosis, resolving a long-standing mystery in mitochondrial biology.

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