• PMID: 24550096
• Gene Name: COIII
• Condition: Asthenozoospermia
• Association: Associated
• Mutation: m.9588G>A
• Population size: 214
• Population details: 214 (31 asthenozoospermic infertile men, 33 normozoospermic infertile men, 150 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Asthenozoospermia

Identification of a novel m.9588G?>?a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men

Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L.

PURPOSE: 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". FAU - Baklouti-Gargouri, Siwar AU - Baklouti-Gargouri S AD - Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Avenue Majida Boulila, 3029, Sfax, Tunisia, asiwarbaklouti@gmail.com. FAU - Ghorbel, Myriam AU - Ghorbel M FAU - Ben Mahmoud, Afif AU - Ben Mahmoud A FAU - Mkaouar-Rebai, Emna AU - Mkaouar-Rebai E FAU - Cherif, Meriam AU - Cherif M FAU - Chakroun, Nozha AU - Chakroun N FAU - Sellami, Afifa AU - Sellami A FAU - Fakhfakh, Faiza AU - Fakhfakh F