Background: Tumor protein () is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 (), which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility.
Objective: This study was designed to examine associations of 72 Arg>Pro (rs1042522), and 309 T>G (rs937283) polymorphisms with spermatogenetic failure in Iranian population.
Materials And Methods: A case-control study was conducted with 150 nonobstructive azoospermia or severe oligozoospermia and 150 fertile controls. The two polymorphisms, 72 Arg>Pro in and 309 T>G in , were genotyped using PCR-RFLP and ARMS-PCR respectively.
Results: Our analyses revealed that the allele and genotype frequencies of the R72P polymorphism were not significantly different between the cases and controls (p=0.41, p=0.40 respectively). Also, no significant differences were found in the allelic (p=0.46) and genotypic (p=0.78) distribution of 309 T>G polymorphism between patients and controls.
Conclusion: The results of this study indicate that polymorphisms of and genes are unlikely to contribute to the pathogenesis of male infertility with spermatogenetic failure.
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Int Urol Nephrol
July 2024
Department of Urology, Istanbul Faculty of Medicine, Istanbul University, Çapa Fatih, 34093, Istanbul, Turkey.
Purpose: Cryptorchidism is a well-defined risk factor for testicular germ cell tumors, whereas the underlying mechanisms have not been fully elucidated. Surgical procedures to reposition undescended testicles into the scrotum (orchidopexy) in early childhood are recommended both to increase fertility potential and to reduce the risk of developing testicular tumors. However, treatment in the post-pubertal period is controversial.
View Article and Find Full Text PDFGenes (Basel)
December 2022
Department of Genetics, CHI de Poissy St Germain en Laye, F-78300 Poissy, France.
Infertility affects about 15% of couples of childbearing age. About half of these cases can be attributed predominantly to a male factor, such as a quantitative or qualitative impairment in spermatogenesis. The first-line genetic screening for non-obstructive azoospermia is limited to karyotyping (to identify chromosome abnormalities) and Y chromosome microdeletions screening, with a view to explaining the spermatogenetic failure and evaluating the likelihood of sperm retrieval in a testicular biopsy.
View Article and Find Full Text PDFAsian J Androl
July 2023
Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai 264000, China.
Andrology
November 2022
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Background: Genetic causes that lead to spermatogenetic failure in patients with nonobstructive azoospermia (NOA) have not been yet completely established.
Objective: To identify low-frequency NOA-associated single nucleotide variants (SNVs) using whole-genome sequencing (WGS).
Materials And Methods: Men with various types of NOA (n = 39), including samples that had been previously tested with whole-exome sequencing (WES; n = 6) and did not result in diagnostic conclusions.
Front Cell Dev Biol
May 2022
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Non-obstructive azoospermia (NOA) is the most severe form of male infertility. Currently, known causative factors, including congenital and several acquired causes only account for approximately 30% of NOA cases. The causes for NOA remain unclear for most patients, which is known as idiopathic (iNOA).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!