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Updated: Apr 20, 2026

Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA
Published on: November 14, 2017
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in
Enrico Baruffini1, Jessica Ferrari1, Cristina Dallabona1
1Department of Life Sciences, University of Parma, Parma, Italy.
Abstract:
Several pathological mutations have been identified in human POLG gene, encoding for the catalytic subunit of Pol γ, the solely mitochondrial replicase in animals and fungi. However, little is known regarding non-pathological polymorphisms found in this gene. Here we studied, in the yeast model Saccharomyces cerevisiae, eight human polymorphisms. We found that most of them are not neutral but enhanced both mtDNA extended mutability and the accumulation of mtDNA point mutations, either alone or in combination with a pathological mutation. In addition, we found that the presence of some SNPs increased the stavudine and/or zalcitabine-induced mtDNA mutability and instability.
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