DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.

doi:10.1093/nar/gkab282

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Article

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.

Nucleic acids research - 21 May 2021

Silva-Pinheiro Pedro, Pardo-Hernández Carlos, Reyes Aurelio, Tilokani Lisa, Mishra Anup, Cerutti Raffaele, Li Shuaifeng, Rozsivalova Dieu-Hien, Valenzuela Sebastian, Dogan Sukru A, Peter Bradley, Fernández-Silva Patricio, Trifunovic Aleksandra, Prudent Julien, Minczuk Michal, Bindoff Laurence, Macao Bertil, Zeviani Massimo, Falkenberg Maria, Viscomi Carlo

Abstract excerpt

Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases is poorly understood and efficient treatments are missing. Here, we generate the PolgA449T/A449T mouse model, which reproduces the A467T change, the most common human recessive mutation of POLG....

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PMID: 33956154
DOI: 10.1093/nar/gkab282
PMCID: PMC8136776

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