Asthenozoospermia is a chief reason for male seminal pathologies with an impression of around 19% of infertile patients. Spermatozoa mitochondrial DNA variations seem to link with low sperm motility. The objective of the study was to assess the relation between mitochondrial mutations and male sterility, especially in asthenozoospermia. The patient semen samples were investigated by studying the sperm physical characters; motility, viability, and morphological parameters were then classified into normozoospermia and asthenozoospermia. In addition, the level of malondialdehyde (MDA) as a bio-indicator of lipid peroxidation, seminal fructose, and total antioxidant capacity (TAC) were estimated. For molecular analysis, DNA from the semen samples was extracted using a DNA extraction kit. ND1, ND2, and ATPase6 genes were amplified by using a specific primer. After the purification procedure, each PCR product was sequenced to identify the single nucleotide polymorphisms (SNPs) in selected genes. A significant negative correlation between seminal plasma malondialdehyde levels and sperm motility was detected. Meanwhile, TAC analysis revealed significantly lower activity (p ≤ 0.05) in the sample of asthenozoospermic than in normozoospermic men. As regards the seminal plasma fructose, there was no significant difference in the fructose level of normozoospermia and asthenozoospermia cases. At the molecular level, 31 diverse nucleotide substitutions were recognized in mitochondrial DNA. Only ten (10) mutations led to amino acid transformation: four have deleterious effects, four are benign, and the other two have conflicting effectiveness. This study is the first in Egypt that is concerned with studying the relationship between the mitochondrial DNA mutations in human spermatozoa of asthenozoospermic patients and fertility. The results displayed scientific indications evidenced that there is an association between mitochondrial mutations and male infertility.

中文翻译：

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埃及不育男性弱精子症与线粒体DNA突变之间的相关性评估

弱精子症是男性精子病理的主要原因，其对不育患者的印象约为19％。精子线粒体DNA变异似乎与精子活力低有关。该研究的目的是评估线粒体突变与男性不育之间的关系，特别是在弱精子症中。通过研究精子的物理特征，对患者的精液样本进行了调查。然后将运动能力，生存力和形态参数分类为正常精子症和弱精子症。此外，估计了丙二醛（MDA）作为脂质过氧化，精果糖和总抗氧化剂能力（TAC）的生物指标的水平。为了进行分子分析，使用DNA提取试剂盒从精液样品中提取DNA。ND1，ND2，通过使用特异性引物扩增了ATP酶和ATPase6基因。纯化步骤后，对每种PCR产物进行测序，以鉴定所选基因中的单核苷酸多态性（SNP）。精浆中丙二醛水平与精子活力之间呈显着负相关。同时，TAC分析显示，弱精子症患者的活动明显低于正常精子症患者的活动（p≤0.05）。至于精浆果糖，正常精子症和弱精子症患者的果糖水平没有显着差异。在分子水平上，在线粒体DNA中识别出31种不同的核苷酸取代。只有十（10）个突变导致氨基酸转化：四个具有有害作用，四个具有良性效应，另外两个具有相互矛盾的功效。这项研究是埃及第一个有关研究弱精子症患者精子中线粒体DNA突变与生育能力之间关系的研究。结果显示科学证据表明线粒体突变与男性不育之间存在关联。