Molecular Biology Reports

, Volume 40, Issue 8, pp 4705–4712 | Cite as

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

  • Siwar Baklouti-Gargouri
  • Myriam Ghorbel
  • Afif Ben Mahmoud
  • Emna Mkaouar-Rebai
  • Meriam Cherif
  • Nozha Chakroun
  • Afifa Sellami
  • Faiza Fakhfakh
  • Leila Ammar-Keskes


In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b] in 66 infertile men suffering from asthenospermia (n = 34) in comparison to normospermic infertile men (n = 32) and fertile men (n = 100) from Tunisian population. A total of 72 nucleotide substitutions in blood cells mitochondrial DNA were found; 63 of them were previously identified and reported in the human mitochondrial DNA database ( and 9 were novel. We also detected in 3 asthenospermic patients a novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene (8.8 %) that was not found in any of normospermic infertile and fertile men. This mutation substituting the valine at position 61 to methionine in a conserved amino acid in the transmembrane functional domain of the polypeptide, induces a reduction of the hydropathy index (from +1.225 to +1.100) and a decrease of the protein 3D structures number (from 39 to 32) as shown by PolyPhen bioinformatic program.


Male infertility Mitochondrial DNA polymorphism COXIII gene m.9387 G>A 



We thank the patients for their cooperation in the present study. This work was performed in collaboration of the Laboratory of Histology in the faculty of Medicine of Sfax in Tunisia. This work was supported by The Tunisian Ministry of Higher Education, Scientific Research and Technology. We extend our thanks to Mr. Hafedh Béjaoui, Coordinator of the English Unit at the Sfax Faculty of Science for having proofread this paper. I certified that all contributors have read and approved the submission to this journal and that there is no financial or commercial involvement or other conflicts of interest by any author.

Conflict of interest

No competing financial interests exist.


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • Siwar Baklouti-Gargouri
    • 1
  • Myriam Ghorbel
    • 1
  • Afif Ben Mahmoud
    • 1
  • Emna Mkaouar-Rebai
    • 1
  • Meriam Cherif
    • 1
  • Nozha Chakroun
    • 2
  • Afifa Sellami
    • 2
  • Faiza Fakhfakh
    • 1
  • Leila Ammar-Keskes
    • 1
    • 2
  1. 1.Laboratory of Molecular Human Genetics, Sfax Faculty of MedicineUniversity of SfaxSfaxTunisia
  2. 2.Laboratory of Histology, Sfax Faculty of MedicineUniversity of SfaxSfaxTunisia

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