• PMID: 23712756
• Gene Name: MT-CO1
• Condition: Asthenozoospermia
• Association: Associated
• Mutation: m.6307A>G
• Population size: 133
• Population details: 133 (33 normozoospermic infertile men, 100 fertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: COXI
• Other associated phenotypes: Asthenozoospermia

A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men

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

Infertility affects 10-15% of the population, of which approximately 40% is due to male etiology and consists primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). Recently, it has been demonstrated that mtDNA substitutions can influence semen quality. In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. A novel m.6307A>G mutation was found in sperm mitochondrial DNA (mtDNA). This mutation was found in six asthenozoospermic patients, and was absent in normozoospermic and fertile men. We also detected 21 known substitutions previously reported in the Human Mitochondrial Database. The m.6307A>G mutation substitutes a highly conserved asparagine at position 135 to serine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging. CI - Copyright © 2013 Wiley Periodicals, Inc. FAU - Baklouti-Gargouri, Siwar AU - Baklouti-Gargouri S AD - Laboratory of Molecular, Human Genetics, Faculty of Medicine, University of Sfax, 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