{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["628(8009)"],"submitter":["Kang Y"],"pubmed_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<sup>1-4</sup>. 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)<sup>5</sup>. Patients homozygous for the MIRAS variant p.W748S show exceptionally variable ages of onset and symptoms<sup>5</sup>, 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"],"journal":["Nature"],"pagination":["844-853"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11041766"],"repository":["biostudies-literature"],"pubmed_title":["Ancestral allele of DNA polymerase gamma modifies antiviral tolerance."],"pmcid":["PMC11041766"],"pubmed_authors":["Verma R","Wartiovaara K","Hepojoki J","Mito T","Manninen T","Kant R","Uusimaa J","Nyman TA","Suomalainen A","Kang Y","Othman A","Zamboni N","Paetau A","Maldonado RS","Vapalahti O","Kareinen L","Singh S","Kipar A","Terzioglu M"],"additional_accession":[]},"is_claimable":false,"name":"Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.","description":"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<sup>1-4</sup>. 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)<sup>5</sup>. Patients homozygous for the MIRAS variant p.W748S show exceptionally variable ages of onset and symptoms<sup>5</sup>, 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","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-06-01T21:48:16.115Z","creation":"2025-04-06T03:16:42.319Z"},"accession":"S-EPMC11041766","cross_references":{"pubmed":["38570685"],"doi":["10.1038/s41586-024-07260-z"]}}