• PMID: 23645088
• Gene Name: MT-ATP8
• Condition: Asthenospermia
• Association: 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 ( www.mitomap.org ) and 9 were novel. The study also detected in 3 asthenospermi
• Mutation: (m.9387 G>A) in COXIII
• Population size: 166
• Population details: 166 (66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100))
• Sex: Male
• Infertility type: Male infertility
• Associated genes: cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b
• Other associated phenotypes: Asthenospermia

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

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

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 ( www.mitomap.org ) 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. 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