Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele
Background: Several recent studies have shown that mitochondrial DNA mutations lead to major disabilities and premature death in carriers. More than 150 mutations in human mitochondrial DNA (mtDNA) genes have been associated with a wide spectrum of disorders. Varicocele, one of the causes of inferti...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Royan Institute (ACECR), Tehran
2016-10-01
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| Series: | International Journal of Fertility and Sterility |
| Subjects: | |
| Online Access: | http://www.ijfs.ir/article_45395_01c17eb7ac2a55ec2baba85b5c76fa80.pdf |
| _version_ | 1818347800004395008 |
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| author | Mohammad Mehdi Heidari Mehri Khatami Amirhossein Danafar Tahere Dianat Ghazaleh Farahmand Ali Reza Talebi |
| author_facet | Mohammad Mehdi Heidari Mehri Khatami Amirhossein Danafar Tahere Dianat Ghazaleh Farahmand Ali Reza Talebi |
| author_sort | Mohammad Mehdi Heidari |
| collection | DOAJ |
| description | Background: Several recent studies have shown that mitochondrial DNA mutations lead to major disabilities and premature death in carriers. More than 150 mutations in human mitochondrial DNA (mtDNA) genes have been associated with a wide spectrum of disorders. Varicocele, one of the causes of infertility in men wherein abnormal inflexion and distension of veins of the pampiniform plexus is observed within spermatic cord, can increase reactive oxygen species (ROS) production in semen and cause oxidative stress and sperm dysfunction in patients. Given that mitochondria are the source of ROS production in cells, the aim of this study was to scan nine mitochondrial genes (MT-COX2, MT-tRNALys , MT-ATP8, MT-ATP6, MT-COX3, MT-tRNAGly , MT-ND3, MT-tRNAArg and MT-ND4L) for mutations in infertile patients with varicocele. Materials and Methods: In this cross-sectional study, polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing were used to detect and identify point mutations respectively in 9 mitochondrial genes in 72 infertile men with varicocele and 159 fertile men. In brief, the samples showing altered electrophoretic patterns of DNA in the SSCP gel were sent for DNA sequencing to identify the exact nucleotide variation. Results: Ten type nucleotide variants were detected exclusively in mitochondrial DNA of infertile men. These include six novel nucleotide changes and four variants previously reported for other disorders. Conclusion: Mutations in mitochondrial genes may affect respiratory complexes in combination with environmental risk factors. Therefore these nucleotide variants probably lead to impaired ATP synthesis and mitochondrial function ultimately interfering with sperm motility and infertility. |
| first_indexed | 2024-12-13T17:39:55Z |
| format | Article |
| id | doaj.art-f89665a07f3a4f88a5b6d08ccd3222e8 |
| institution | Directory Open Access Journal |
| issn | 2008-076X 2008-0778 |
| language | English |
| last_indexed | 2024-12-13T17:39:55Z |
| publishDate | 2016-10-01 |
| publisher | Royan Institute (ACECR), Tehran |
| record_format | Article |
| series | International Journal of Fertility and Sterility |
| spelling | doaj.art-f89665a07f3a4f88a5b6d08ccd3222e82022-12-21T23:36:49ZengRoyan Institute (ACECR), TehranInternational Journal of Fertility and Sterility2008-076X2008-07782016-10-0110330330910.22074/ijfs.2016.504745395Mitochondrial Genetic Variation in Iranian Infertile Men with VaricoceleMohammad Mehdi Heidari0Mehri Khatami1Amirhossein Danafar2Tahere Dianat3Ghazaleh Farahmand4Ali Reza Talebi5Department of Biology, Faculty of Science, Yazd University, Yazd, IranDepartment of Biology, Faculty of Science, Yazd University, Yazd, IranDepartment of Biology, Ashkezar Islamic Azad University, Ashkezar, Yazd, IranDepartment of Biology, Faculty of Science, Yazd University, Yazd, IranDepartment of Biology, Faculty of Science, Islamic Azad University Shahrekord, Shahrekord, Iran4Research and Clinical Center for Infertility and Department of Anatomy, Shahid Sadughi University of Medical Sciences, Yazd, IranBackground: Several recent studies have shown that mitochondrial DNA mutations lead to major disabilities and premature death in carriers. More than 150 mutations in human mitochondrial DNA (mtDNA) genes have been associated with a wide spectrum of disorders. Varicocele, one of the causes of infertility in men wherein abnormal inflexion and distension of veins of the pampiniform plexus is observed within spermatic cord, can increase reactive oxygen species (ROS) production in semen and cause oxidative stress and sperm dysfunction in patients. Given that mitochondria are the source of ROS production in cells, the aim of this study was to scan nine mitochondrial genes (MT-COX2, MT-tRNALys , MT-ATP8, MT-ATP6, MT-COX3, MT-tRNAGly , MT-ND3, MT-tRNAArg and MT-ND4L) for mutations in infertile patients with varicocele. Materials and Methods: In this cross-sectional study, polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing were used to detect and identify point mutations respectively in 9 mitochondrial genes in 72 infertile men with varicocele and 159 fertile men. In brief, the samples showing altered electrophoretic patterns of DNA in the SSCP gel were sent for DNA sequencing to identify the exact nucleotide variation. Results: Ten type nucleotide variants were detected exclusively in mitochondrial DNA of infertile men. These include six novel nucleotide changes and four variants previously reported for other disorders. Conclusion: Mutations in mitochondrial genes may affect respiratory complexes in combination with environmental risk factors. Therefore these nucleotide variants probably lead to impaired ATP synthesis and mitochondrial function ultimately interfering with sperm motility and infertility.http://www.ijfs.ir/article_45395_01c17eb7ac2a55ec2baba85b5c76fa80.pdfinfertilityvaricocelemutationmitochondrial genes |
| spellingShingle | Mohammad Mehdi Heidari Mehri Khatami Amirhossein Danafar Tahere Dianat Ghazaleh Farahmand Ali Reza Talebi Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele International Journal of Fertility and Sterility infertility varicocele mutation mitochondrial genes |
| title | Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele |
| title_full | Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele |
| title_fullStr | Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele |
| title_full_unstemmed | Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele |
| title_short | Mitochondrial Genetic Variation in Iranian Infertile Men with Varicocele |
| title_sort | mitochondrial genetic variation in iranian infertile men with varicocele |
| topic | infertility varicocele mutation mitochondrial genes |
| url | http://www.ijfs.ir/article_45395_01c17eb7ac2a55ec2baba85b5c76fa80.pdf |
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