Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

  title={Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.},
  author={Alessandra Baracca and Gianluca Sgarbi and Marina Mattiazzi and Gabriella A Casalena and Eleonora Pagnotta and M L Valentino and M. Moggio and Giorgio Lenaz and V Carelli and Giancarlo Solaini},
  journal={Biochimica et biophysica acta},
  volume={1767 7},
Two point mutations (T>G and T>C) at the same 8993 nucleotide of mitochondrial DNA (at comparable mutant load), affecting the ATPase 6 subunit of the F1F0-ATPase, result in neurological phenotypes of variable severity in humans. We have investigated mitochondrial function in lymphocytes from individuals carrying the 8993T>C mutation: the results were compared with data from five 8993T>G NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) patients. Both 8993T>G and 8993T>C mutations led to energy… CONTINUE READING
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