Article
Small molecules restore mutant mitochondrial DNA polymerase activity.
Nature - 1 Jun 2025
Valenzuela Sebastian, Zhu Xuefeng, Macao Bertil, Stamgren Mattias, Geukens Carol, Charifson Paul S, Kern Gunther, Hoberg Emily, Jenninger Louise, Gruszczyk Anja V, Lee Seoeun, Johansson Katarina A S, Miralles Fusté Javier, Shi Yonghong, Kerns S Jordan, Arabanian Laleh, Martinez Botella Gabriel, Ekström Sofie, Green Jeremy, Griffin Andrew M, Pardo-Hernández Carlos, Keating Thomas A, Küppers-Munther Barbara, Larsson Nils-Göran, Phan Cindy, Posse Viktor, Jones Juli E, Xie Xie, Giroux Simon, Gustafsson Claes M, Falkenberg Maria
Abstract excerpt
Mammalian mitochondrial DNA (mtDNA) is replicated by DNA polymerase γ (POLγ), a heterotrimeric complex consisting of a catalytic POLγA subunit and two accessory POLγB subunits1. More than 300 mutations in POLG, the gene encoding the catalytic subunit, have been linked to severe, progressive conditions with high rates of morbidity and mortality, for which no treatment exists2. Here we report on the discovery and...
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