Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure

Mao, Genhong; Huang, Xiao-Hui; Geng, Xujing; Li, Qian; Dou, Qian

doi:10.5114/aoms.2020.94658

Cited by 6 publications

(5 citation statements)

References 24 publications

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“…Interestingly, our findings agree with the results of a previous study where they reported that mtDNA mutations reduce motility and negatively affect the fertilization rate [ 34 ]. Our results also agree with a previous study that identified statistical associations between seven variants in the ND5 gene and fertilization failure [ 35 ]. In the present study, we determined that the embryo quality score has a negative correlation with the frequency of total mtDNA variation.…”

Section: Discussionsupporting

confidence: 93%

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

et al. 2021

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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.

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Section: Discussionsupporting

confidence: 93%

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

et al. 2021

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“…It can be concluded from this analysis that its gene Mt-nd6 is low expressed in the experimental group, but its Slc12a4 is highly expressed in the experimental group, especially in the low concentration and high concentration prochloraz experimental groups, and there is no significant difference in the expression between the two (shown in S3 and Table 2). Many published papers found that Mt-nd6 is believed to belong to the minimal assembly required for catalysis, which is responsible to Complex I function in the transfer of electrons from NADH to the respiratory chain and immediate electron acceptor for the enzyme, which is closely related to sperm mitochondrial function [24]. It is also found that point mutations, deletions and copy number changes of mitochondrial genes are related to sperm activity [24].…”

Section: Discussionmentioning

confidence: 99%

“…Many published papers found that Mt-nd6 is believed to belong to the minimal assembly required for catalysis, which is responsible to Complex I function in the transfer of electrons from NADH to the respiratory chain and immediate electron acceptor for the enzyme, which is closely related to sperm mitochondrial function [24]. It is also found that point mutations, deletions and copy number changes of mitochondrial genes are related to sperm activity [24]. Studies have also shown that mitochondria located in the cytoplasm are also important targets for estrogenic action, which the inner mitochondrial membrane converts cholesterol into pregnenolone, a precursor to other steroid hormones, including androgens and estrogens [25,26].…”

Section: Discussionmentioning

confidence: 99%

Prochloraz induced alterations in the expression of mRNA expression in reproductive system of male offspring mice

hu,

cao,

tang

et al. 2023

Preprint

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Prochloraz is a widely used fungicide in the world, which belongs to the environmental endocrine disrupting estrogen pesticide of reproductive system. The purpose of the present study was to investigate Prochloraz on reproductive system of male offspring mice after perinatal exposure to by prochloraz. The different doses of Prochloraz (group MA, MB and MD) were given to male father mice by intragastric administration. The results firstly showed that the average testicular weight in different dosage groups were significantly lower than the control group (0.312g ,0.294g, Vs 0.355g; P < 0.05), and the testicular coefficient index in group MB and MD is also lower than the control group. Secondly, all valid RNA-Seq data were successfully mapped to the mouse genome database for further analysis. Thirdly, we found that significantly expressed mRNAs clustered in group B and D compared to control. Finally, the results showed that male mouse reproductive relative genes response to prochloraz invasion were greatly changed, which involved in the regulation of sperm mitochondria function by two genes (Mt-nd6 and Slc12a4) , and six genes (Greb1, Esrrb , Catsperb, Mospd2, Sohlh1 and Specc1) is closely related to sperm functions and estrogen reaction. It can be concluded that prochloraz play an important role on male offspring reproductive system, which lays a foundation for the follow-up evaluation of its reproductive toxicological effects.

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“…The point mutations, copy number variations, and deletion in mitochondrial genes are associated with the diminished activity of sperm. The variations in the mitochondrial NADH dehydrogenase subunit 6 ( ND6 ) gene were correlated with the total fertilization failure ( 89 ). Nucleotide variations and mutation in sperm mitochondrial NADH dehydrogenase subunit 3 ( ND3 ) gene was found in asthenospermic patients ( 90 ).…”

Section: Discussionmentioning

confidence: 99%

Sperm Transcripts Associated With Odorant Binding and Olfactory Transduction Pathways Are Altered in Breeding Bulls Producing Poor-Quality Semen

et al. 2022

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Spermatozoa carries a reservoir of mRNAs regulating sperm functions and fertilizing potential. Although it is well recognized that a considerable proportion of high genetic merit breeding bulls produce poor-quality semen, the transcriptomic alterations in spermatozoa from such bulls are not understood. In the present study, comparative high-throughput transcriptomic profiling of spermatozoa from good and poor-quality semen-producing bulls was carried out to identify the transcripts associated with semen quality. Using next-generation sequencing (NGS), we identified 11,632 transcripts in Holstein Friesian bull spermatozoa; after total hit normalization, a total of 544 transcripts were detected, of which 185 transcripts were common to both good and poor-quality semen, while 181 sperm transcripts were unique to good quality semen, and 178 transcripts were unique to poor-quality semen. Among the co-expressed transcripts, 31 were upregulated, while 108 were downregulated, and 46 were neutrally expressed in poor-quality semen. Bioinformatics analysis revealed that the dysregulated transcripts were predominantly involved in molecular function, such as olfactory receptor activity and odor binding, and in biological process, such as detection of chemical stimulus involved in sensory perception, sensory perception of smell, signal transduction, and signal synaptic transmission. Since a majority of the dysregulated transcripts were involved in the olfactory pathway (85% of enriched dysregulated genes were involved in this pathway), the expression of selected five transcripts associated with this pathway (OR2T11, OR10S1, ORIL3, OR5M11, and PRRX1) were validated using real-time qPCR, and it was found that their transcriptional abundance followed the same trend as observed in NGS; the sperm transcriptional abundance of OR2T11 and OR10S1 differed significantly (p < 0.05) between good and poor-quality semen. It is concluded that poor-quality semen showed altered expression of transcripts associated with olfactory receptors and pathways indicating the relationship between olfactory pathway and semen quality in bulls.

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Correlation between sperm mitochondrial ND5 and ND6 gene variations and total fertilisation failure

Cited by 6 publications

References 24 publications

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

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

Prochloraz induced alterations in the expression of mRNA expression in reproductive system of male offspring mice

Sperm Transcripts Associated With Odorant Binding and Olfactory Transduction Pathways Are Altered in Breeding Bulls Producing Poor-Quality Semen

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