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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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 |
format | Article |
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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. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c607t-6914df969cffe73188b71ac21b6472e6cea4407b12a4d1cfaf9133b850687ac13</citedby><cites>FETCH-LOGICAL-c607t-6914df969cffe73188b71ac21b6472e6cea4407b12a4d1cfaf9133b850687ac13</cites><orcidid>0000-0001-8335-5381</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813956/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7813956/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,729,782,786,866,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33459881$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><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. 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. The results displayed scientific indications evidenced that there is an association between mitochondrial mutations and male infertility.</description><subject>Adenosine triphosphate</subject><subject>Amino acids</subject><subject>Analysis</subject><subject>Annealing</subject><subject>Antioxidants</subject><subject>Bioindicators</subject><subject>Biomedical Engineering and Bioengineering</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Engineering</subject><subject>Fertility</subject><subject>Fructose</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic research</subject><subject>Genomes</subject><subject>Indicator species</subject><subject>Infertility</subject><subject>Lipid peroxidation</subject><subject>Lipids</subject><subject>Male fertility</subject><subject>Male sterility</subject><subject>Malondialdehyde</subject><subject>Manufacturers</subject><subject>Medical research</subject><subject>Medicine, Experimental</subject><subject>Mitochondria</subject><subject>Mitochondrial DNA</subject><subject>Motility</subject><subject>mtDNA</subject><subject>Mutation</subject><subject>Mutations</subject><subject>Nucleotides</subject><subject>Phosphorylation</subject><subject>ROS</subject><subject>Semen</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Sperm</subject><subject>Sperm motility</subject><subject>Spermatozoa</subject><issn>1687-157X</issn><issn>2090-5920</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNp9kl9rFDEUxQdR7FL7BXyQgM9Tc_NnkrwIS61aKPqi4FvIZJLdLDPJmswq9dOb3a2tC-LkYUJy7i_3XE7TvAR8CSC7N4VRYNBigluMAeruSbMgWOGWK4KfNgvopGiBi29nzUUpG1w_ziRweN6cUcq4khIWzbQsxZUyuTij5JFNObvRzCFF1Lv5p3MRmTKvXUy_Uipbl6dgkIkDmsKc7DrFIQczoneflmjazYfCgkJE16u77RxMrHvv8hxGh-obL5pn3ozFXdz_z5uv76-_XH1sbz9_uLla3ra2w2JuOwVs8KpT1nsnKEjZCzCWQN8xQVxnnWEMix6IYQNYb7wCSnvJcfVsLNDz5ubIHZLZ6G0Ok8l3OpmgDwcpr7SpTdnRadkxwrwwvWWMcW6loL1yhGAOvbIKV9bbI2u76yc32DqpbMYT6OlNDGu9Sj-0kEAV7yrg9T0gp-87V2a9Sbscq39NBFGcMiHoo2plald1aqnC7BSK1ctOVJVQdM-6_IeqrsFNwabofJ30aQE5FticSsnOPzQOWO-DpI9B0jVI-hAkvbf86m_LDyV_YlMF9Cgo9SquXH609B_sbyxw08Y</recordid><startdate>20210118</startdate><enddate>20210118</enddate><creator>Abd Elrahman, Mohamed M.</creator><creator>El makawy, Aida I.</creator><creator>Hassanane, Mohamed S.</creator><creator>Alam, Sally S.</creator><creator>Hassan, Nagwa H. A.</creator><creator>Amer, Medhat K.</creator><general>Springer Berlin Heidelberg</general><general>Springer</general><general>Springer Nature B.V</general><general>Elsevier</general><scope>C6C</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>L6V</scope><scope>LK8</scope><scope>M7P</scope><scope>M7S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-8335-5381</orcidid></search><sort><creationdate>20210118</creationdate><title>Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men</title><author>Abd Elrahman, Mohamed M. ; El makawy, Aida I. ; Hassanane, Mohamed S. ; Alam, Sally S. ; Hassan, Nagwa H. 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. A.</creatorcontrib><creatorcontrib>Amer, Medhat K.</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Access via ProQuest (Open Access)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Journal of Genetic Engineering and Biotechnology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Abd Elrahman, Mohamed M.</au><au>El makawy, Aida I.</au><au>Hassanane, Mohamed S.</au><au>Alam, Sally S.</au><au>Hassan, Nagwa H. 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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source | DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Springer Nature OA Free Journals; PubMed Central |
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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