A Novel m. 6307A>G Mutation in the Mitochondrial COXI Gene in Asthenozoospermic Infertile Men

被引：19

作者：

Baklouti-Gargouri, Siwar ^{[1
]}

Ghorbel, Myriam ^{[1
]}

Ben Mahmoud, Afif ^{[1
]}

Mkaouar-Rebai, Emna ^{[1
]}

Cherif, Meriam ^{[1
]}

Chakroun, Nozha ^{[2
]}

Sellami, Afifa ^{[2
]}

Fakhfakh, Faiza ^{[1
]}

Ammar-Keskes, Leila ^{[1
,2
]}

机构：

[1] Univ Sfax, Lab Mol, Fac Med, Sfax, Tunisia

[2] Univ Sfax, Histol Lab, Fac Med, Sfax, Tunisia

来源：

MOLECULAR REPRODUCTION AND DEVELOPMENT | 2013年 / 80卷 / 07期

关键词：

CYTOCHROME-C-OXIDASE; LOW SPERM MOTILITY; DNA DELETIONS; ND4; GENE; SPERMATOZOA; ASSOCIATION; C11994T; DISEASE;

D O I：

10.1002/mrd.22197

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Infertility affects 10-15% of the population, of which approximately 40% is due to male etiology and consists primarily of low sperm count (oligozoospermia) and/or abnormal sperm motility (asthenozoospermia). Recently, it has been demonstrated that mtDNA substitutions can influence semen quality. In this study, we performed a sequence analysis of the mitochondrial cytochrome oxidase I (COXI) gene in 31 infertile men suffering from asthenozoospermia in comparison to 33 normozoospermic infertile men and 100 fertile men from the Tunisian population. A novel m.6307A>G mutation was found in sperm mitochondrial DNA (mtDNA). This mutation was found in six asthenozoospermic patients, and was absent in normozoospermic and fertile men. We also detected 21 known substitutions previously reported in the Human Mitochondrial Database. The m.6307A>G mutation substitutes a highly conserved asparagine at position 135 to serine. In addition, PolyPhen-2 analysis predicted that this variant is probably damaging. Mol. Reprod. Dev. 80: 581-587, 2013. (c) 2013 Wiley Periodicals, Inc.

引用

页码：581 / 587

页数：7

共 28 条

[21] A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent [J].