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

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...

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Veröffentlicht in:Journal of Genetic Engineering and Biotechnology 2021-01, Vol.19 (1), p.11-15, Article 11
Hauptverfasser: Abd Elrahman, Mohamed M., El makawy, Aida I., Hassanane, Mohamed S., Alam, Sally S., Hassan, Nagwa H. A., Amer, Medhat K.
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container_end_page 15
container_issue 1
container_start_page 11
container_title Journal of Genetic Engineering and Biotechnology
container_volume 19
creator Abd Elrahman, Mohamed M.
El makawy, Aida I.
Hassanane, Mohamed S.
Alam, Sally S.
Hassan, Nagwa H. A.
Amer, Medhat K.
description 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.
doi_str_mv 10.1186/s43141-020-00111-0
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A. ; Amer, Medhat K.</creator><creatorcontrib>Abd Elrahman, Mohamed M. ; El makawy, Aida I. ; Hassanane, Mohamed S. ; Alam, Sally S. ; Hassan, Nagwa H. A. ; Amer, Medhat K.</creatorcontrib><description>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.</description><identifier>ISSN: 1687-157X</identifier><identifier>EISSN: 2090-5920</identifier><identifier>DOI: 10.1186/s43141-020-00111-0</identifier><identifier>PMID: 33459881</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adenosine triphosphate ; Amino acids ; Analysis ; Annealing ; Antioxidants ; Bioindicators ; Biomedical Engineering and Bioengineering ; Deoxyribonucleic acid ; DNA ; Engineering ; Fertility ; Fructose ; Gene mutations ; Genes ; Genetic aspects ; Genetic research ; Genomes ; Indicator species ; Infertility ; Lipid peroxidation ; Lipids ; Male fertility ; Male sterility ; Malondialdehyde ; Manufacturers ; Medical research ; Medicine, Experimental ; Mitochondria ; Mitochondrial DNA ; Motility ; mtDNA ; Mutation ; Mutations ; Nucleotides ; Phosphorylation ; ROS ; Semen ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Sperm ; Sperm motility ; Spermatozoa</subject><ispartof>Journal of Genetic Engineering and Biotechnology, 2021-01, Vol.19 (1), p.11-15, Article 11</ispartof><rights>The Author(s) 2021</rights><rights>COPYRIGHT 2021 Springer</rights><rights>The Author(s) 2021. 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A.</creatorcontrib><creatorcontrib>Amer, Medhat K.</creatorcontrib><title>Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men</title><title>Journal of Genetic Engineering and Biotechnology</title><addtitle>J Genet Eng Biotechnol</addtitle><addtitle>J Genet Eng Biotechnol</addtitle><description>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. 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A. ; Amer, Medhat K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c607t-6914df969cffe73188b71ac21b6472e6cea4407b12a4d1cfaf9133b850687ac13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adenosine triphosphate</topic><topic>Amino acids</topic><topic>Analysis</topic><topic>Annealing</topic><topic>Antioxidants</topic><topic>Bioindicators</topic><topic>Biomedical Engineering and Bioengineering</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Engineering</topic><topic>Fertility</topic><topic>Fructose</topic><topic>Gene mutations</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic research</topic><topic>Genomes</topic><topic>Indicator species</topic><topic>Infertility</topic><topic>Lipid peroxidation</topic><topic>Lipids</topic><topic>Male fertility</topic><topic>Male sterility</topic><topic>Malondialdehyde</topic><topic>Manufacturers</topic><topic>Medical research</topic><topic>Medicine, Experimental</topic><topic>Mitochondria</topic><topic>Mitochondrial DNA</topic><topic>Motility</topic><topic>mtDNA</topic><topic>Mutation</topic><topic>Mutations</topic><topic>Nucleotides</topic><topic>Phosphorylation</topic><topic>ROS</topic><topic>Semen</topic><topic>Single nucleotide polymorphisms</topic><topic>Single-nucleotide polymorphism</topic><topic>Sperm</topic><topic>Sperm motility</topic><topic>Spermatozoa</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Abd Elrahman, Mohamed M.</creatorcontrib><creatorcontrib>El makawy, Aida I.</creatorcontrib><creatorcontrib>Hassanane, Mohamed S.</creatorcontrib><creatorcontrib>Alam, Sally S.</creatorcontrib><creatorcontrib>Hassan, Nagwa H. 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A.</au><au>Amer, Medhat K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men</atitle><jtitle>Journal of Genetic Engineering and Biotechnology</jtitle><stitle>J Genet Eng Biotechnol</stitle><addtitle>J Genet Eng Biotechnol</addtitle><date>2021-01-18</date><risdate>2021</risdate><volume>19</volume><issue>1</issue><spage>11</spage><epage>15</epage><pages>11-15</pages><artnum>11</artnum><issn>1687-157X</issn><eissn>2090-5920</eissn><abstract>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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>33459881</pmid><doi>10.1186/s43141-020-00111-0</doi><tpages>15</tpages><orcidid>https://orcid.org/0000-0001-8335-5381</orcidid><oa>free_for_read</oa></addata></record>
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subjects Adenosine triphosphate
Amino acids
Analysis
Annealing
Antioxidants
Bioindicators
Biomedical Engineering and Bioengineering
Deoxyribonucleic acid
DNA
Engineering
Fertility
Fructose
Gene mutations
Genes
Genetic aspects
Genetic research
Genomes
Indicator species
Infertility
Lipid peroxidation
Lipids
Male fertility
Male sterility
Malondialdehyde
Manufacturers
Medical research
Medicine, Experimental
Mitochondria
Mitochondrial DNA
Motility
mtDNA
Mutation
Mutations
Nucleotides
Phosphorylation
ROS
Semen
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Sperm
Sperm motility
Spermatozoa
title Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men
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