Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993

Alessandra Baracca, Gianluca Sgarbi, Marina Mattiazzi, Gabriella Casalena, Eleonora Pagnotta, Maria L. Valentino, Maurizio Moggio, Giorgio Lenaz, Valerio Carelli, Giancarlo Solaini

Research output: Contribution to journalArticlepeer-review


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 deprivation and ROS overproduction. However, the relative contribution of the two pathogenic components is different depending on the mutation considered. The 8993T > G change mainly induces an energy deficiency, whereas the 8993T > C favours an increased ROS production. These results possibly highlight the different pathogenic mechanism generated by the two mutations at position 8993 and provide useful information to better characterize the biochemical role of the highly conserved Leu-156 in ATPase 6 subunit of the mitochondrial ATP synthase complex.

Original languageEnglish
Pages (from-to)913-919
Number of pages7
JournalBiochimica et Biophysica Acta - Bioenergetics
Issue number7
Publication statusPublished - Jul 2007


  • ATP synthase
  • Membrane potential
  • Mitochondria
  • mtDNA
  • ROS
  • T8993C

ASJC Scopus subject areas

  • Biophysics


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