Response to “Letter to the editors" in regard to the article 'Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients’

Published:September 12, 2019DOI:https://doi.org/10.1016/j.jns.2019.116441
      We would like to thank Dr. Josef Finsterer for the inquiry regarding our study [
      • Mani S.
      • Rao S. Narasimha
      • Kranthi Kumar M.V.
      Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients.
      ]. As per the main concern of Dr. Josef towards the pathogenic nature of all the identified variations of mitochondrial DNA of Leigh syndrome (LS) patients, we would like to mention that in our study [
      • Mani S.
      • Rao S. Narasimha
      • Kranthi Kumar M.V.
      Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients.
      ], we have primarily highlighted the level of genetic heterogeneity in mitochondrial DNA of thiamine deficient LS patients. Further based upon the association of these nucleotides with other diseases, their status in controls as well as results of in-silico analysis we proposed the possible pathogenic nature of these variation. The outcome of our study did not prove the pathogenicity of these variations rather identified some important variations which may further be studied by cybrid assays to functionally validate their pathogenicity.

      Keywords

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