title: Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.
abstract: OBJECTIVE
  Infertility affects 10-15 % of the population, of which, approximately 40 % is due to male etiology consisting primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). It has been demonstrated that mtDNA base substitutions can greatly influence semen quality.
  
  
  METHODS
  In the present study we performed a systematic sequence analysis of the mitochondrial cytochrome oxidase III (COIII) gene in 31 asthenozoospermic infertile men in comparaison to normozoospermic infertile men (n=33) and fertile men (n=150) from Tunisian population.
  
  
  RESULTS
  A novel m.9588G>A mutation was found in the mtDNA sperm's in all asthenozoospermic patients and was absent in the normozoospermic and in fertile men. The m.9588G>A mutation substitutes a highly conserved Glutamate at position 128 to Lysine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging".
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Avenue Majida Boulila, 3029, Sfax, Tunisia, asiwarbaklouti@gmail.com.
authors.forename: Siwar
authors.initials: S
authors.lastname: Baklouti-Gargouri
authors.forename: Myriam
authors.initials: M
authors.lastname: Ghorbel
authors.forename: Afif
authors.initials: A
authors.lastname: Ben Mahmoud
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Meriam
authors.initials: M
authors.lastname: Cherif
authors.forename: Nozha
authors.initials: N
authors.lastname: Chakroun
authors.forename: Afifa
authors.initials: A
authors.lastname: Sellami
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
authors.forename: Leila
authors.initials: L
authors.lastname: Ammar-Keskes
mesh_terms: D000595:Amino Acid Sequence; D053627:Asthenozoospermia / Q000235:genetics*; D016022:Case-Control Studies; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011487:Protein Conformation; D014416:Tunisia
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV