Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.

ABSTRACT: Mitochondria are critical modulators of antiviral tolerance through the release of mitochondrial RNA and DNA (mtDNA and mtRNA) fragments into the cytoplasm after infection, activating virus sensors and type-I interferon (IFN-I) response^1-4. The relevance of these mechanisms for mitochondrial diseases remains understudied. Here we investigated mitochondrial recessive ataxia syndrome (MIRAS), which is caused by a common European founder mutation in DNA polymerase gamma (POLG1)⁵. Patients homozygous for the MIRAS variant p.W748S show exceptionally variable ages of onset and symptoms⁵, indicating that unknown modifying factors contribute to disease manifestation. We report that the mtDNA replicase POLG1 has a role in antiviral defence mechanisms to double-stran

SUBMITTER: Kang Y 

PROVIDER: S-EPMC11041766 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature