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

• Published in: Biochemical and biophysical research communications Vol. 450; no. 1; pp. 610 - 615
• Main Authors: Siwar, Baklouti-Gargouri, Myriam, Ghorbel, Afif, Ben Mahmoud, Emna, Mkaouar-Rebai, Nozha, Chakroun, Afifa, Sellami, Faiza, Fakhfakh, Leila, Ammar-Keskes
• Format: Journal Article
• Language: English
• Published: United States 18.07.2014
• Subjects: 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; COXII gene; Male infertility; Mitochondrial DNA polymorphism; tRNA(His)
• ISSN: 1090-2104
• DOI: 10.1016/j.bbrc.2014.06.020

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) .