• PMID: 24931671
• Gene Name: THG1L
• Condition: Asthenospermia
• Association: Associated
• Mutation: COXII gene (m.8021 G/A), tRNA(His) gene (m.12187C>A)
• Population size: 64
• Population details: 64 (31 asthenospermia, 33 normospermic infertile men)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, cytochrome b and tRNA(His)
• Other associated phenotypes: Asthenospermia

Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men

Siwar BG, Myriam G, Afif BM, Emna MR, Nozha C, Afifa S, Faiza F, Leila AK.

In this study we performed a systematic sequence analysis of 7 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, cytochrome b and tRNA(His)) in 64 infertile men suffering from asthenospermia (n=31) in comparison to normospermic infertile men (n=33) from Tunisian population. A total of 92 nucleotide substitutions in sperm mitochondrial DNA were found; 88 of them were previously identified and reported in the human mitochondrial DNA database (www.mitomap.org) and 4 were novel. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men. This mutation substituting the Isoleucine at position 146 to Valine in a conserved amino acid in the transmembrane functional domain of the protein. And the second was detected in the tRNA(His) gene (m.12187C>A) this mutation was found in homoplasmic state and was absent in normospermic patients. It was conserved throughout evolution and affects a wobble adenine in the T-loop region at the 54 codon of mitochondrial tRNA(His) . CI - Copyright © 2014 Elsevier Inc. All rights reserved. FAU - Siwar, Baklouti-Gargouri AU - Siwar BG AD - Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. Electronic address: asiwarbaklouti@gmail.com. FAU - Myriam, Ghorbel AU - Myriam G AD - Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. FAU - Afif, Ben Mahmoud AU - Afif BM AD - Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. FAU - Emna, Mkaouar-Rebai AU - Emna MR AD - Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. FAU - Nozha, Chakroun AU - Nozha C AD - Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia. FAU - Afifa, Sellami AU - Afifa S AD - Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia. FAU - Faiza, Fakhfakh AU - Faiza F AD - Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.