Mitochondrial DNA Polymerase y Mutations and Their Implications in mtDNA Alterations in XXXX .

@entity1 @entity22992 @entity5 @entity377 @entity14 @entity2383
UNASSIGNED: Mitochondrial DNA was found to be highly mutated in @entity14 cells. One of the key molecules involved in the maintenance of the mitochondrial genome is the nuclear-encoded polymerase gamma. The aim of our study was to determine if there is a link between polymorphisms within the polymerase gamma gene ( @entity22992 ) and somatic mutations within the mitochondrial genome in @entity5 cells. We investigated @entity22992 sequence variability in 50 @entity14 @entity1 whose complete mitochondrial genome sequences were determined. Relative mtDNA copy number was also determined. We identified 251 sequence variants in the @entity22992 gene. Most of them were germline-specific (   92%). Twenty-one somatic changes in @entity22992 were found in 10 @entity14 @entity1 . We have found no association between the occurrence of mtDNA somatic mutations and the somatically occurring variants in @entity22992 . MtDNA content was reduced in @entity1 carrying somatic variants in @entity22992 or germline @entity377 variants located in the region encoding the @entity22992 polymerase domain, but the difference did not reach statistical significance. Our findings suggest that somatic mtDNA mutations occurring in @entity14 are not a consequence of somatic mutations in @entity22992 . Nevertheless, @entity22992 @entity377 variants may lead to a decrease in mtDNA content, and consequently result in @entity2383 .
