Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

Elsanousi, Safa A.M.; Javed, Murid; Sufyan, Hamad Al; Amer, Sawsan M.

doi:10.3844/ajbbsp.2020.15.24

Cited by 2 publications

(3 citation statements)

References 34 publications

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“…Associating the present results with the earlier studies, one can find worthy evidence for applying the ATPase 6 gene in differentiating between fertile and infertile men [65]. The sequence of MT-ATPase 6 gene revealed a high frequency of nucleotide changes in asthenozoospermic men.…”

Section: Discussionsupporting

confidence: 85%

“…Bimah et al [ 64 ] confirmed that the frequencies of occurrence of the mutations at nts 8860 and 8701 were a hundred percent (100%) in both the normozoospermic and abnormospermic subjects. Elsanousi et al [ 65 ] sequenced the ATPase subunit 6 mitochondrial genes (ATPase 6) for infertile and normal Saudi men to identify the SNPs associated with male infertility. Seven non-synonymous substitutions were obtained with 4 novel sites (C8684T, G8860A, C8876T, and G9055A) in asthenozoospermic men.…”

Section: Discussionmentioning

confidence: 99%

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Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Elrahman

Makawy

Hassanane

et al. 2021

Journal of Genetic Engineering and Biotechnology

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Background 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. Results 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. Conclusions 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.

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Elrahman

Makawy

Hassanane

et al. 2021

Journal of Genetic Engineering and Biotechnology

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“…Additionally, the percentage of sperm motility showed a significant correlation to the frequency of that 7599 bp deletion [56]. There was a correlation between the Single-Nucleotide Polymorphisms (SNPs) and male infertility in a Saudi population [57].…”

Section: The Correlation Coefficient Of Amino Acid Mutation and Post-...mentioning

confidence: 97%

Green Tea Extract in the Extender Improved the Post-Thawed Semen Quality and Decreased Amino Acid Mutation of Kacang Buck Sperm

Susilowati

Mustofa

Wurlina

et al. 2022

Veterinary Sciences

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This study was the first to combine the addition of antioxidants to a skim milk–egg yolk (SM–EY) extender and different equilibration periods to obtain higher quality post-thawed Kacang buck semen. This study aimed to determine the effects of green tea extract (GTE) on the quality of frozen Kacang goat sperm equilibrated for one and two hours. The pool of Kacang buck ejaculate was equally divided into four portions and was diluted in an SM–EY extender that contained four doses of 0, 0.05, 0.10, and 0.15 mg of GTE/100 mL for T0, T1, T2, and T3 groups, respectively. The aliquots were treated for an equilibration period of 1–2 h before further processing as frozen semen. Post-thawed semen quality was evaluated for sperm quality. The Sanger method was used for DNA sequencing, and the amino acid sequence was read using MEGA v.7.0. The post-thawed semen of the T2 group that was equilibrated for one hour had the highest semen quality. Pre-freezing motility had the highest determination coefficient compared to post-thawed sperm motility. This study is the first to report amino acid mutation due to freeze–thawing. The frequency of amino acid mutations revealed that T2 was the least mutated amino acid. Glycine, valine, leucine, serine, and asparagine strongly correlated to post-thawed sperm motility. It can be concluded that a combination of 0.1 mg GTE/100 mL extender as an antioxidant and one-hour equilibration period resulted in the best post-thawed Kacang buck semen quality.

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Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

Cited by 2 publications

References 34 publications

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Green Tea Extract in the Extender Improved the Post-Thawed Semen Quality and Decreased Amino Acid Mutation of Kacang Buck Sperm

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