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Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population

Baklouti-Gargouri, Siwar; Ghorbel, Myriam; Chamkha, Imen LU ; Mkaouar-Rebai, Emna; Sellami, Afifa; Chakroun, Nozha; Fakhfakh, Faiza and Ammar-Keskes, Leila (2012) In Genetic Testing and Molecular Biomarkers 16(11). p.302-1298
Abstract

Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A>G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic... (More)

Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A>G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic infertile men and fertile men. This mutation substituting the isoleucine at position 158 to valine in a highly conserved amino acid induces a reduction of the hydropathy index (from +1.920 to +0.239) and a decrease of the protein 3D structure number (from 50 to 26) as shown by PolyPhen bioinformatic program.

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author
publishing date
type
Contribution to journal
publication status
published
keywords
Asthenozoospermia, Electron Transport Complex IV, Genes, Mitochondrial, Humans, Male, Mitochondria, Mutation, Missense, Tunisia
in
Genetic Testing and Molecular Biomarkers
volume
16
issue
11
pages
5 pages
publisher
Mary Ann Liebert, Inc.
external identifiers
  • Scopus:84868025830
ISSN
1945-0265
DOI
10.1089/gtmb.2012.0052
language
English
LU publication?
no
id
531bf12b-2457-4ed1-90ff-ce95188e974c
date added to LUP
2016-09-14 13:39:31
date last changed
2016-11-21 11:05:05
@misc{531bf12b-2457-4ed1-90ff-ce95188e974c,
  abstract     = {<p>Cytochrome c oxidase encoded by multiple mitochondrial genes (COXI, COXII, and COXIII) and nuclear genes is an essential component of the mitochondrial respiratory chain that catalyzes the reduction of molecular oxygen by reduced cytochrome c. Subunits COXI and COXII of cytochrome c oxidase are known to play the most essential role in proton pumping and electron transfer. In this study we screened the somatic mitochondrial COXI gene of infertile men suffering from asthenospermia (n=34) in comparison to normozoospermic infertile men (n=32) and fertile men (n=100) from the Tunisian population. A novel homoplasmic missense mitochondrial mutation (m.6375A&gt;G) was found in 5 asthenospermic patients (14%) but not in any of normozoospermic infertile men and fertile men. This mutation substituting the isoleucine at position 158 to valine in a highly conserved amino acid induces a reduction of the hydropathy index (from +1.920 to +0.239) and a decrease of the protein 3D structure number (from 50 to 26) as shown by PolyPhen bioinformatic program.</p>},
  author       = {Baklouti-Gargouri, Siwar and Ghorbel, Myriam and Chamkha, Imen and Mkaouar-Rebai, Emna and Sellami, Afifa and Chakroun, Nozha and Fakhfakh, Faiza and Ammar-Keskes, Leila},
  issn         = {1945-0265},
  keyword      = {Asthenozoospermia,Electron Transport Complex IV,Genes, Mitochondrial,Humans,Male,Mitochondria,Mutation, Missense,Tunisia},
  language     = {eng},
  number       = {11},
  pages        = {302--1298},
  publisher    = {ARRAY(0x8adf6f8)},
  series       = {Genetic Testing and Molecular Biomarkers},
  title        = {Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population},
  url          = {http://dx.doi.org/10.1089/gtmb.2012.0052},
  volume       = {16},
  year         = {2012},
}