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. 2014 May;31(5):595-600.
doi: 10.1007/s10815-014-0187-2. Epub 2014 Feb 19.

Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men

Siwar Baklouti-Gargouri  1 , Myriam Ghorbel, Afif Ben Mahmoud, Emna Mkaouar-Rebai, Meriam Cherif, Nozha Chakroun, Afifa Sellami, Faiza Fakhfakh, Leila Ammar-Keskes
Affiliations

Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men

Siwar Baklouti-Gargouri et al. J Assist Reprod Genet. 2014 May.

Abstract

Purpose: Infertility affects 10-15 % of the population, of which, approximately 40 % is due to male etiology consisting primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). It has been demonstrated that mtDNA base substitutions can greatly influence semen quality.

Methods: In the present study we performed a systematic sequence analysis of the mitochondrial cytochrome oxidase III (COIII) gene in 31 asthenozoospermic infertile men in comparaison to normozoospermic infertile men (n=33) and fertile men (n=150) from Tunisian population.

Results: A novel m.9588G>A mutation was found in the mtDNA sperm's in all asthenozoospermic patients and was absent in the normozoospermic and in fertile men. The m.9588G>A mutation substitutes a highly conserved Glutamate at position 128 to Lysine. In addition, PolyPhen-2 analysis predicted that this variant is "probably damaging".

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Figures

Fig. 1
Fig. 1
a Sequencing electropherogram showing the presence of the novel m.9588G > A mutation in the mitochondrial COIII gene in a representative patient and its absence in a control subject. b Sequence alignment of the mitochondrial COIII gene in different species. The Glutamate at position 128 is highly conserved throughout evolution. Amino acid change of interest is framed and indicated with arrow
Fig. 2
Fig. 2
a Results of the PolyPhen-2 analysis predicting the pathogenicity the p.128 N > S substitution on the mitochondrial COIII protein. b Location of the Glu128 residue in the 3D structure of the mitochondrial COIII protein
Fig. 3
Fig. 3
Predicted transmembrane structures of human MT-COIII protien by the TopPred program
See this image and copyright information in PMC

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