Article

The Y951N patient mutation inactivates the intramolecular switch in human mitochondrial DNA POLγ

2024-08-28

Abstract excerpt

Mitochondrial DNA (mtDNA) stability, essential for cellular energy production, relies on DNA polymerase gamma (POLγ). Here, we show that the POLγ Y951N disease causing mutation induces replication stalling and severe mtDNA depletion. However, unlike other POLγ disease causing mutations, Y951N does not directly impair exonuclease activity and only mildly affects polymerase activity. Instead, we found that Y951N com...

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Literature Corpus work: 6863ae58-f9fe-5f3a-9b32-c23fea01986a
DOI: 10.1101/2024.08.28.610080

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