Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?

Research output: Contribution to journalArticle


Mitochondria play an essential role to supply the cell with metabolic energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As a consequence, they are also the primary source of cellular reactive oxygen species (ROS) which can cause oxidative damage of individual respiratory chain complexes. Indeed, affected OXPHOS subunits result in decreases in ATP production and increases in ROS formation which generate oxidative phosphorylation deficiency leading to mitochondrial dysfunctions. It has been suggested that ROS play a vital role in the pathogenesis of mitochondrial diseases. To the best of our knowledge, this is the first study which aimed to investigate the genetic variant effect of the antioxidant enzymes GSTM1 and GSTT1 on mitochondrial disease among a Tunisian population. In this report, 109 patients with mitochondrial disease and 154 healthy controls were genotyped by multiplex PCR amplification, and data were analyzed by SPSS v20 software. The results showed that GSTM1 null genotype was found to be associated with mitochondrial disease with a protective effect; however, no significant association of GSTT1 polymorphism with mitochondrial disease risk was revealed. But, interestingly, our findings highlight that GSTM1 active and GSTT1 null genotype combination increased by three fold the risk of developing mitochondrial disease with pc = 0.020, notably mitochondrial myopathy with pc = 0.046 and Leigh syndrome with pc = 0.042. In conclusion, this study suggests that GSTM1 active and GSTT1 null genotype combination might be a risk factor in developing mitochondrial disease.


  • Raouia Ghorbel
  • Ghada Ben Salah
  • Rania Ghorbel
  • Afif Ben Mahmoud
  • Imen Chamkha
  • Emna Mkaouar-Rebai
  • Leila Ammar-Keskes
  • Faiza Fakhfakh
External organisations
  • University of Sfax
  • Qassim University
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cell and Molecular Biology


  • Gene polymorphism, Glutathione S-transferases (GSTs), GSTM1, GSTT1, Mitochondrial disease, Oxidative stress
Original languageEnglish
Pages (from-to)5779-5787
JournalEnvironmental Science and Pollution Research
Issue number6
Early online date2017 Dec 12
Publication statusPublished - 2018 Feb
Publication categoryResearch