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

Baklouti-Gargouri Siwar; Ghorbel Myriam; Ben Mahmoud Afif; Mkaouar-Rebai Emna; Chakroun Nozha; Sellami Afifa; Fakhfakh Faiza; Ammar-Keskes Leila

doi:10.1016/j.bbrc.2014.06.020

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

Biochem Biophys Res Commun. 2014 Jul 18;450(1):610-5. doi: 10.1016/j.bbrc.2014.06.020. Epub 2014 Jun 12.

Authors

Baklouti-Gargouri Siwar¹, Ghorbel Myriam², Ben Mahmoud Afif², Mkaouar-Rebai Emna², Chakroun Nozha³, Sellami Afifa³, Fakhfakh Faiza², Ammar-Keskes Leila⁴

Affiliations

¹ Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. Electronic address: asiwarbaklouti@gmail.com.
² Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.
³ Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.
⁴ Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia; Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.

PMID: 24931671
DOI: 10.1016/j.bbrc.2014.06.020

Abstract

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) .

Keywords: COXII gene; Male infertility; Mitochondrial DNA polymorphism; tRNA(His).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asthenozoospermia / genetics*
Electron Transport Complex IV / genetics*
Genetic Predisposition to Disease / genetics*
Humans
Male
Middle Aged
Mitochondria / genetics*
Mitochondrial Proteins / genetics*
Mutation / genetics*
Polymorphism, Single Nucleotide / genetics
RNA, Transfer, His / genetics*
Young Adult

Substances

Mitochondrial Proteins
RNA, Transfer, His
cytochrome C oxidase subunit II
Electron Transport Complex IV