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Preimplantation Genetic Testing and Reproductive Genetics from a Physician's Perspective
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
In women, genetic factors have an impact on the number and quality of oocytes, and besides chromosomal defects and fragile X syndrome they also include genetic disorders of oocyte maturation [11], endometriosis [12,13], polycystic ovarian syndrome, BRCA1/2 gene mutations, and ZP2 and ZP3 gene mutations [14]. In addition, genetic causes of implantation disorders, lethal genetic mutations [15,16], and endometrial receptivity disorders occur where an important role is played, in particular, by the progesterone receptor A and estrogen receptor beta. Causes of infertility also include genetic causes of recurrent abortion, such as the HLA-C and HLA-G status, and numerous other genes 1.7 men, genetic causes of infertility account for up to 30% of cases [17]. They include chromosomal defects (Klinefelter syndrome, Down syndrome, chromosomal rearrangements). Deletions in the region of AZFa, AZFb, or AZFc are one of the most common causes of nonobstructive azoospermia and severe oligozoospermia. Additional causes include mutations and polymorphisms in genes for the receptors for FSH, LH, and androgens, in the genes CFTR, AURKC, PICK1, SPATA16, CFAP43, CFAP44, SEPT12, CATSPER, ADAM2, PLCZ1, and others [18,19].
Participation of signaling proteins in sperm hyperactivation
Published in Systems Biology in Reproductive Medicine, 2022
Joaquín Cordero-Martínez, Guadalupe Elizabeth Jimenez-Gutierrez, Charmina Aguirre-Alvarado, Verónica Alacántara-Farfán, Germán Chamorro-Cevallos, Ana L. Roa-Espitia, Enrique O. Hernández-González, Lorena Rodríguez-Páez
CatSper in one of the wide variety of channels located in the sperm flagellum. It is a calcium channel specifically expressed in spermatozoa and is essential for sperm functions and fertility (Mannowetz et al. 2017; Brenker et al. 2018). This channel is responsible for the increase in [Ca2+]i, which is required for capacitation and hyperactivation (Marquez and Suarez 2004; Tamburrino et al. 2014; Diao et al. 2017). The CatSper family comprises of four members (CatSper 1-4), all of which is required for hyperactivation (Qi et al. 2007). Recently, new auxiliary subunits present in the CatSper structure have been identified. They combine to form an ultracomplex (CATSPERβ, γ, δ, ε, ζ, and EFCAB9) (Lin et al. 2021), being the α-chain the one that selectively permits the entry of Ca2+ (Navarro et al. 2008; Sun et al. 2017). CatSper from human spermatozoa is activated by the human follicular fluid and progesterone (Strünker et al. 2011; Brown et al. 2017; Zou et al. 2017). It is sensitive to alkalinization of pHi and is a voltage-gated channel (Torrezan-Nitao et al. 2021). Owing to its important functions, this cation channel is considered to be the main target for future male contraceptive methodologies. CatSper1 null mice (Catsper−/−) failed to facilitate hyperactivation and fertilize an intact oocyte; additionally, the influx of Ca2+ induced by cAMP signaling was abolished (Ren et al. 2001).
Correlation between expression of CatSper1,2 and sperm parameters in the gamma irradiated adult mouse testis
Published in International Journal of Radiation Biology, 2019
Shabnam Mohammadi, Mojtaba Kianmehr, Maryam Mohammadi, Zahra Fahimian, Elham Karimimanesh, Mostafa Farazifar, Zahra Nakhaei, Nafiseh Golamneghad, Basir Bolourifard, Mehran Gholamin, Atena Mansouri, Reyhaneh Sadat Mahmoodi M, Shokouhozaman Soleymanifard, Samaneh Boroumand-Noughabi, Nasibeh Ghandy, Ali Delshad, Fatemeh Mohammadzadeh, Hojjat Norasteh, Majid Ghayour-Mobarhan, Gordon AA. Ferns
Previous studies showed that environment damage e.g. drug abuse (Tajaddini Mahani et al. 2016) or formalin (Tajaddini et al. 2014) can decrease motility-relate CatSper genes. Expression of CatSper 1 and 2 decreased after gamma radiation. This reduction was more intense in higher gamma doses. In line with these results, Taki et al. (2009) reported a direct relationship between the reduction in expression of genes in testis and increasing doses of gamma radiation using microarray technique (Taki et al. 2009). Zhou et al. (2010) showed that a single dose of 6 Gy of gamma rays increases the expression of somatic cells in the testes of rats (Zhou et al. 2010). In another study, 1 Gy and 1 Gy × 2 gamma rays changed the expression of Dazl-Tnp2-vps26a genes in testis. These changes were more severe in the higher dose of radiation (Shah et al. 2009). It seems that the mechanism of the effect of gamma radiation on CatSper gene expression is via changes in the flow of calcium, especially in the unique calcium channels, CatSpers channels. Another study showed increases in the survival rate in gamma-irradiated mice after administration of calcium blockers (Goyal et al. 2001). In another study, the flow of calcium in voltage-dependent calcium channels in the brain reduced after exposure to gamma rays (Kandasamy et al. 1991). The first study investigated the effects of gamma radiation on gene expression CatSper that is research strengths.
Effect of cadmium and nickel on expression of CatSper 1 and 2 genes in mice
Published in Toxin Reviews, 2018
Shabnam Mohammadi, Mehran Gholamin, Atena Mansouri, Reyhaneh Sadat Mahmoodian, Beheshte Babazadeh, Seyed Mehdi Kebriaei, Behdad Zibaei, Mohammad Roshanaei, Farzaneh Daneshvar, Mozhgan Khandehro, Mohammad Amin Khodadadegan, Ali Delshad, Fatemeh Mohammadzadeh, Maryam Mohammadi, Saeed Sadeghi, Sara Shoeibi, Samaneh Boroumand-Noughabi, Majid Ghayour-Mobarhan, Shima Tavallaie, Azadeh Vafaei, Gordon A. A. Ferns
Our findings showed that the administration of a dose of 2 mg/kg cadmium caused a decrease in the thickness of germinal epithelium as well as sperm parameters. Besides, a down-regulation of CatSper 1 and CatSper 2 genes was observed in the cadmium group. In the nickel group, spermatic arrest was not observed in the seminiferous tubules but the expression of CatSper gene 2 decreased compared to the control group. There was no significant difference between the PAB values in the nickel group compared to the control group, while these values were significantly higher in the cadmium group compared to the control group. There has been considerable interest in CatSper gene functions in the past decade due to their critical role in sperm motility (Jin et al.2005). The focus on heavy metals makes sense for two reasons, one that their cationic state would have a biological interaction with the CatSper channels, and two that cadmium has been implicated as a weak endocrine disrupter that could impact CatSper expression.