Laboratory of Molecular, Human Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Mol Reprod Dev. 2013 Jul;80(7):581-7. doi: 10.1002/mrd.22197. Epub 2013 Jun 17.
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.
不育症影响了 10-15%的人口，其中约 40%是由男性病因引起的，主要表现为精子数量低（少精症）和/或精子运动能力异常（弱精症）。最近，已经证明线粒体 DNA 取代可以影响精液质量。在这项研究中，我们对 31 名患有弱精症的不育男性的线粒体细胞色素氧化酶 I（COXI）基因进行了序列分析，与 33 名正常精子不育男性和 100 名来自突尼斯人群的生育男性进行了比较。在精子线粒体 DNA（mtDNA）中发现了一个新的 m.6307A>G 突变。该突变在 6 名弱精症患者中发现，在正常精子和生育男性中均不存在。我们还检测到了之前在人类线粒体数据库中报道的 21 个已知取代。m.6307A>G 突变取代了位置 135 处高度保守的天冬酰胺为丝氨酸。此外，PolyPhen-2 分析预测该变体是“可能有害的”。
