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Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
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  • Published on:
    Analysis in yeast suggests that POLG p.G268A is neither a pathological mutation nor a neutral SNP

    It was with great interest that I read the study by Tang and co- authors [1], in which they discovered twenty-five novel mutations in DNA polymerase gamma. Based on the presence of p.G268A substitution in heterozygosis in 19 subjects from a cohort of 2697 unrelated patients, they proposed to reclassify this mutation as a neutral polymorphism or a polymorphic modifier rather than a pathological mutation. Smith and co- auth...

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    Conflict of Interest:
    None declared.
  • Published on:
    POLG p.G268A and p.G517V are not pathogenic mutations
    • Conrad Smith, Clinical Scientist
    • Other Contributors:
      • Carl Fratter, Julie Evans, Anneke Seller, Michael Parker, Sharon Pagdin, Mary Sweeney, Garry Brown and Joanna Poulton

    In their recently published paper describing mutations in mitochondrial DNA polymerase gamma, Tang et al.(1) propose that the POLG p.G268A (c.803G>C) and p.G517V (c.1550G>T) variants which have previously been reported as pathogenic mutations should be considered as unclassified variants that may represent rare neutral polymorphisms or polymorphic modifiers.

    We have also identified these variants in our...

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    Conflict of Interest:
    None declared.