Six polymorphisms in genes involved in DNA double-strand break repair and chromosome synapsis: association with male infertility.

Six polymorphisms in genes involved in DNA double-strand break repair and chromosome synapsis: association with male infertility. Syst Biol Reprod Med. 2015 Jun 18;:1-7 Authors: Zhang X, Ding M, Ding X, Li T, Chen H Abstract Four genes involved in DNA double-strand break repair and chromosome synapsis, i.e., testis expressed gene 11 (TEX11), testis expressed gene 15 (TEX15), mutL homolog 1 (MLH1), and homolog 3 (MLH3), play critical roles in genome integrity, meiotic recombination, and gametogenesis. We explored the possible association between single nucleotide polymorphisms (SNPs) in these genes and idiopathic male infertility involving azoospermia or oligozoospermia. A total of 614 fertile control and infertile men were recruited to this study in Sichuan, China. The latter group included 244 men with azoospermia and 72 men with oligozoospermia. Six SNPs in the TEX11, TEX15, MLH1, and MLH3 genes were investigated in both patients and controls by sequencing. The frequency distributions of SNPs rs6525433, rs175080, rs6525433-rs4844247, and rs1800734-rs175080 were found to be significantly different between patients and control groups (p 
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research

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CONCLUSION: Neither Arg194Trp nor Arg399Gln polymorphisms in the XRCC1 gene influenced risk of INOA in our study. However, these findings may be helpful in improving the understanding of the etiology of male infertility. PMID: 31004343 [PubMed - as supplied by publisher]
Source: Urology Journal - Category: Urology & Nephrology Authors: Tags: Urol J Source Type: research
Authors: Cho CL, Esteves SC, Agarwal A Abstract Varicoceles exert deleterious effect on testicular function. The condition has been associated with male infertility, testicular hypotrophy and pain. These comprises the common indications for varicocele repair currently. Significant improvement in semen parameters and pregnancy outcomes had been suggested by reports decades ago. However, selection of the best candidates remains an issue since not all patients respond positively to treatment. Consensus has been reached in recent decade after the publication of a series of meta-analyses. Significant improvement in preg...
Source: Panminerva Medica - Category: General Medicine Tags: Panminerva Med Source Type: research
Conclusion We have identified a rich and complex sperm transcriptome with known and novel coding RNAs, lncRNAs and sncRNAs that resembles the human, mouse and cattle counterparts. Their roles are mainly related to the regulation of spermatogenesis, fertility and early embryo development. These spermatozoal transcripts are fragmented, likely in a selective manner, consistently affecting some genes more than others across samples. This suggests that their fragmentation is not stochastic and follows an unknown deterministic pattern with potential functional implications. Similarly, the variability of the transcript abundance...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractUbiquitin-specific protease 26 (USP26) is a deubiquitylating enzyme belonging to the USPs family with a transcription pattern restricted to the male germline. Since protein ubiquitination is an essential regulatory mechanism during meiosis, many efforts have been focused on elucidating the function of USP26 and its relationship with fertility. During the last decade, several studies have reported the presence of different polymorphisms inUSP26 in patients with non-obstructive azoospermia (NOA) or severe oligozoospermia suggesting that this gene may be associated with human infertility. However, other studies have r...
Source: Chromosoma - Category: Genetics & Stem Cells Source Type: research
Infertility due to nonobstructive azoospermia is treatable with the use of testicular sperm extraction and IVF. The optimal approach for sperm retrieval is microdissection testicular sperm extraction (mTESE). This systematic review summarizes and evaluates the literature pertaining to patient optimization before mTESE, mTESE technique, and post-mTESE testicular tissue processing. Preoperative patient optimization has been assessed in terms of adjuvant hormone therapy and varicocele repair. Limited data are available for adjuvant medical therapy, and although also limited, data for varicocele repair support increased sperm ...
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Views and reviews Source Type: research
ConclusionVaricocele treatment must be recommended when other causes of infertility have been treated. Our results suggest the use of sclerotherapy for varicocele repair.Level of Evidence2 b
Source: CardioVascular and Interventional Radiology - Category: Radiology Source Type: research
Abstract Compelling evidence suggest that germs cells are predominantly sensitive to DNA damaging agents in comparison to other cells. High fidelity DNA repair in testicular cells thus becomes indispensable to preserve the genomic integrity for passing on to the progeny. Compromised DNA repair machinery in the testicular cells may result in impaired spermatogenesis and infertility. It remains unclear if the alterations in the expression of DNA repair genes correlate with azoospermia and male infertility. In the present study, 54 non-obstructive azoospermic infertile patients with hypospermatogenesis (HS, n ...
Source: DNA Repair - Category: Genetics & Stem Cells Authors: Tags: DNA Repair (Amst) Source Type: research
Publication date: Available online 15 January 2019Source: Mutation Research/Genetic Toxicology and Environmental MutagenesisAuthor(s): Vertika Singh, Sujit Kumar Mohanty, Priyanka Verma, Arijit Chakraborty, Sameer Trivedi, Singh Rajender, Kiran SinghAbstractHigh fidelity DNA repair is critical to sustain the genomic integrity and quality of developing germ cells. Deficiencies in DNA repair machinery may result in increased DNA damage in germ cell leading to abnormal spermatogenesis and infertility. X-ray repair cross-complementing group 1 (XRCC1) is a testis enriched protein that plays a crucial role in the DNA base excisi...
Source: Mutation Research Genetic Toxicology and Environmental Mutagenesis - Category: Genetics & Stem Cells Source Type: research
Conclusion (s)In conclusion, AA genotype of 751A  >  C SNP inERCC2 correlated with a higher risk of male infertility and may contribute to an increased risk of azoospermia and male infertility in Indian men.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
In conclusion, indications for microsurgical varicocelectomy may be extended by the concomitant right and left clinical varicocele and sexual dysfunction with varicocele.
Source: Andrologia - Category: Urology & Nephrology Authors: Tags: INVITED REVIEW Source Type: research
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