Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men |
| |
Authors: | Siwar Baklouti-Gargouri Myriam Ghorbel Afif Ben Mahmoud Emna Mkaouar-Rebai Meriam Cherif Nozha Chakroun Afifa Sellami Faiza Fakhfakh Leila Ammar-Keskes |
| |
Institution: | 1. Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Avenue Majida Boulila, 3029, Sfax, Tunisia 2. Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Sfax, Tunisia
|
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|