External and Genetic Conditions Determining Male Infertility

We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and...

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Main Authors: Piotr Kamiński, Jędrzej Baszyński, Izabela Jerzak, Brendan P. Kavanagh, Ewa Nowacka-Chiari, Mateusz Polanin, Marek Szymański, Alina Woźniak, Wojciech Kozera
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/21/15/5274
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author Piotr Kamiński
Jędrzej Baszyński
Izabela Jerzak
Brendan P. Kavanagh
Ewa Nowacka-Chiari
Mateusz Polanin
Marek Szymański
Alina Woźniak
Wojciech Kozera
author_facet Piotr Kamiński
Jędrzej Baszyński
Izabela Jerzak
Brendan P. Kavanagh
Ewa Nowacka-Chiari
Mateusz Polanin
Marek Szymański
Alina Woźniak
Wojciech Kozera
author_sort Piotr Kamiński
collection DOAJ
description We explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzymatic responses, causing oxidative stress, and leading to apoptosis, they downgrade semen quality. These factors are closely connected with male reproductive potential since genetic polymorphisms and mutations in chromosomes 7, X, and Y critically impact on spermatogenesis. Microdeletions in the Azoospermic Factor AZF region directly cause defective sperm production. Among mutations in chromosome 7, impairments in the cystic fibrosis transmembrane conductance regulator <i>CFTR</i> gene are destructive for fertility in cystic fibrosis, when spermatic ducts undergo complete obstruction. This problem was not previously analyzed in such a form. Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst <i>AZF</i> genes, the deleted in azoospermia <i>DAZ</i> gene family is reported as most frequently deleted AZF. Screening of AZF microdeletions is useful in explaining idiopathic cases of male infertility as well as in genetic consulting prior to assisted reproduction. Based on the current state of research we answer the following questions: (1) How do environmental stressors lessen the quality of sperm and reduce male fertility; (2) which chemical elements induce oxidative stress and immunogenetic changes in the male reproductive system; (3) how do polymorphisms correlate with changes in reproductive potential and pro-antioxidative mechanisms as markers of pathophysiological disturbances of the male reproductive condition; (4) how do environmental stressors of immunogenetic disorders accompany male infertility and responses; and (5) what is the distribution and prevalence of environmental and genetic risk factors.
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spelling doaj.art-2ce2d2991fbf4568b17b02d4e38c762f2023-11-20T07:54:10ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-07-012115527410.3390/ijms21155274External and Genetic Conditions Determining Male InfertilityPiotr Kamiński0Jędrzej Baszyński1Izabela Jerzak2Brendan P. Kavanagh3Ewa Nowacka-Chiari4Mateusz Polanin5Marek Szymański6Alina Woźniak7Wojciech Kozera8Department of Biotechnology, Institute of Biological Sciences, University of Zielona Góra, Prof. Szafran St. 1, PL 65-516 Zielona Góra, PolandDepartment of Ecology and Environmental Protection, Department of Medical Biology and Biochemistry, Collegium Medicum in Bydgoszcz, Faculty of Medicine, Nicolaus Copernicus University in Toruń, M. Skłodowska-Curie St. 9, PL 85-094 Bydgoszcz, PolandDepartment of Pharmacology and Toxicology, Collegium Medicum, University of Zielona Góra, Zyta St. 28, PL 65-046 Zielona Góra, PolandRCSI Biology, Royal College of Surgeons in Ireland, 123 St. Stephen’s Green, Dublin 2, IrelandDepartment of Sport Promotion, Institute of Biological Sciences, University of Zielona Góra, Prof. Szafran St. 1, PL 65-516 Zielona Góra, PolandKarol Marcinkowski University Hospital in Zielona Góra, Zyta St. 26, PL 65-045 Zielona Góra, PolandFemale Pathology and Oncological Gynecology, Department of Obstetrics, Faculty of Medicine, University Hospital No. 2, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Ujejski St. 75, PL 85-168 Bydgoszcz, PolandDepartment of Medical Biology and Biochemistry, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Karłowicz St. 24, PL 85-092 Bydgoszcz, PolandDepartment of Agricultural Chemistry, Faculty of Agriculture and Biotechnology, UTP University of Science and Technology in Bydgoszcz, Seminaryjna St. 5, PL 85-326 Bydgoszcz, PolandWe explain environmental and genetic factors determining male genetic conditions and infertility and evaluate the significance of environmental stressors in shaping defensive responses, which is used in the diagnosis and treatment of male infertility. This is done through the impact of external and internal stressors and their instability on sperm parameters and their contribution to immunogenetic disorders and hazardous DNA mutations. As chemical compounds and physical factors play an important role in the induction of immunogenetic disorders and affect the activity of enzymatic and non-enzymatic responses, causing oxidative stress, and leading to apoptosis, they downgrade semen quality. These factors are closely connected with male reproductive potential since genetic polymorphisms and mutations in chromosomes 7, X, and Y critically impact on spermatogenesis. Microdeletions in the Azoospermic Factor AZF region directly cause defective sperm production. Among mutations in chromosome 7, impairments in the cystic fibrosis transmembrane conductance regulator <i>CFTR</i> gene are destructive for fertility in cystic fibrosis, when spermatic ducts undergo complete obstruction. This problem was not previously analyzed in such a form. Alongside karyotype abnormalities AZF microdeletions are the reason of spermatogenic failure. Amongst <i>AZF</i> genes, the deleted in azoospermia <i>DAZ</i> gene family is reported as most frequently deleted AZF. Screening of AZF microdeletions is useful in explaining idiopathic cases of male infertility as well as in genetic consulting prior to assisted reproduction. Based on the current state of research we answer the following questions: (1) How do environmental stressors lessen the quality of sperm and reduce male fertility; (2) which chemical elements induce oxidative stress and immunogenetic changes in the male reproductive system; (3) how do polymorphisms correlate with changes in reproductive potential and pro-antioxidative mechanisms as markers of pathophysiological disturbances of the male reproductive condition; (4) how do environmental stressors of immunogenetic disorders accompany male infertility and responses; and (5) what is the distribution and prevalence of environmental and genetic risk factors.https://www.mdpi.com/1422-0067/21/15/5274male infertilityenvironmental stressorstrace elementspro-antioxidant mechanismspolymorphismsAZF-microdeletions
spellingShingle Piotr Kamiński
Jędrzej Baszyński
Izabela Jerzak
Brendan P. Kavanagh
Ewa Nowacka-Chiari
Mateusz Polanin
Marek Szymański
Alina Woźniak
Wojciech Kozera
External and Genetic Conditions Determining Male Infertility
International Journal of Molecular Sciences
male infertility
environmental stressors
trace elements
pro-antioxidant mechanisms
polymorphisms
AZF-microdeletions
title External and Genetic Conditions Determining Male Infertility
title_full External and Genetic Conditions Determining Male Infertility
title_fullStr External and Genetic Conditions Determining Male Infertility
title_full_unstemmed External and Genetic Conditions Determining Male Infertility
title_short External and Genetic Conditions Determining Male Infertility
title_sort external and genetic conditions determining male infertility
topic male infertility
environmental stressors
trace elements
pro-antioxidant mechanisms
polymorphisms
AZF-microdeletions
url https://www.mdpi.com/1422-0067/21/15/5274
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AT ewanowackachiari externalandgeneticconditionsdeterminingmaleinfertility
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