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线粒体 ND1、ND2、ND5 和 ND6 基因的遗传变异对精子活力和卵胞浆内单精子注射（ICSI）结局的影响。

Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.

机构信息

Department of Obstetrics & Gynecology, Reproductive Medicine Unit, Saarland University, Homburg, Germany.

Department of Biotechnology & Genetic Engineering, Jordan University of Science and Technology, Irbid, Jordan.

出版信息

Reprod Sci. 2021 May;28(5):1540-1555. doi: 10.1007/s43032-020-00449-3. Epub 2021 Jan 21.

DOI:10.1007/s43032-020-00449-3
PMID:33475980
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8076152/
Abstract

Sperm mitochondrial dysfunction causes the generation of an insufficient amount of energy needed for sperm motility. This will affect sperm fertilization capacity, and thus, most asthenozoospermic men usually require assisted reproductive techniques. The etiology of asthenozoospermia remains largely unknown. The current study aimed to investigate the effect of mitochondrial genetic variants on sperm motility and intracytoplasmic sperm injection (ICSI) outcomes. A total of 150 couples from the ICSI cycle were enrolled in this study. One hundred five of the male partners were asthenozoospermic patients, and they were subdivided into three groups according to their percentage of sperm motility, while forty-five of the male partners were normozoospermic. Genetic variants were screened using direct Sanger's sequencing in four mitochondrial genes (nicotinamide adenine dinucleotide hydrogen (NADH) dehydrogenase 1 (ND1), NADH dehydrogenase 2 (ND2), NADH dehydrogenase 5 (ND5), and NADH dehydrogenase 6 (ND6)). We identified three significant variants: 13708G>A (rs28359178) in ND5, 4216T>C (rs1599988) in ND1, and a novel 12506T>A in ND5 with P values 0.006, 0.036, and 0.013, respectively. The medians of sperm motility, fertilization rate, embryo cleavage score, and embryo quality score were significantly different between men showing 4216T>C, 12506T>A, 13708G>A and wild type, Mann-Whitney P values for the differences in the medians were < 0.05 in all of them. The results from this study suggest that 13708G>A, 12506T>A, and 4216 T>C variants in sperm mitochondrial DNA negatively affect sperm motility and ICSI outcomes.

摘要

精子线粒体功能障碍导致精子运动所需的能量不足。这将影响精子的受精能力，因此，大多数弱精症患者通常需要辅助生殖技术。弱精症的病因仍很大程度上未知。本研究旨在探讨线粒体遗传变异对精子运动和卵胞浆内单精子注射（ICSI）结果的影响。共纳入 150 对接受 ICSI 周期的夫妇。105 名男性伴侣为弱精症患者，根据精子运动率分为三组，45 名男性伴侣为正常精子症。使用直接 Sanger 测序在四个线粒体基因（烟酰胺腺嘌呤二核苷酸氢（NADH）脱氢酶 1（ND1）、NADH 脱氢酶 2（ND2）、NADH 脱氢酶 5（ND5）和 NADH 脱氢酶 6（ND6））中筛选遗传变异。我们发现了三个有意义的变异：ND5 中的 13708G>A（rs28359178）、ND1 中的 4216T>C（rs1599988）和 ND5 中的一个新的 12506T>A，P 值分别为 0.006、0.036 和 0.013。显示 4216T>C、12506T>A、13708G>A 和野生型的男性的精子运动率、受精率、胚胎分裂评分和胚胎质量评分中位数有显著差异，中位数差异的 Mann-Whitney P 值均 <0.05。本研究结果表明，精子线粒体 DNA 中的 13708G>A、12506T>A 和 4216T>C 变异会对精子运动和 ICSI 结果产生负面影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/cd0c52e9f794/43032_2020_449_Fig12_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/cd0c52e9f794/43032_2020_449_Fig12_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/2692709da44c/43032_2020_449_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/39f4e6efdf11/43032_2020_449_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/b01793d764c1/43032_2020_449_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/5e09d2527bfb/43032_2020_449_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/00c187526cb1/43032_2020_449_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/9448b1b77802/43032_2020_449_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/398e521a6910/43032_2020_449_Fig9_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/8cc7c6645204/43032_2020_449_Fig10_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/93f4e890733c/43032_2020_449_Fig11_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/efa4/8076152/cd0c52e9f794/43032_2020_449_Fig12_HTML.jpg

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