
The ancestral p.W748S variant in the mitochondrial DNA replicase POLG1 compromises antiviral defense mechanisms, leading to variable disease manifestations in mitochondrial recessive ataxia syndrome (MIRAS) patients.


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The POLG1 mutation p.W748S, which is associated with mitochondrial recessive ataxia syndrome, dampens innate immune responses by compromising mtDNA replisome stability,&nbsp;and this&nbsp;explains why a&nbsp;viral infection can&nbsp;trigger the development of the disease and&nbsp;contribute to its variable clinical manifestation.

Ancestral allele of DNA polymerase gamma modifies antiviral tolerance - Nature

ancestral-dna-polymerase-gamma-variant-modulates-antiviral-tolerance-and-disease-manifestation-in-mitochondrial-ataxia-syndrome


Ancestral DNA Polymerase Gamma Variant Modulates Antiviral Tolerance and Disease Manifestation in Mitochondrial Ataxia Syndrome
