Expression of miR-21 &IL-4 in endometriosis.

BACKGROUND: Endometriosis characterized with existence of endometrial-like tissue outside the uterus. Fibrosis of ectopic lesions is an important feature of endometriosis. IL-4 induces fibrosis via fibroblast proliferation, collagen production and myofibroblast differentiation. Increasing of miR-21 expression promotes fibroblast activation and fibrosis expansion. The aim of study was to evaluate the expression of miR-21 and its relationship with IL-4 gene expression in endometrial ectopic and eutopic tissues of endometriosis patients. METHODS AND RESULTS: Ectopic and eutopic tissue samples were taken from 20 women with endometriosis, and control samples were taken from the endometrium of 20 endometriosis-free women. The relative expression of IL-4 and miR-21 evaluated by Real Time PCR. IL-4 relative gene expression was significantly increased in ectopic tissue compared to eutopic (p = 0.025) and control tissue (p = 0.021). The relative expression of miR-21 gene in ectopic tissue was increased compared to eutopic (p = 0.850) and control tissue (p = 0.978) but these differences were not significant. Also, the correlation between IL-4 and miR-21 relative gene expression was not significant (p = 0.083). CONCLUSION: The increased expression of miR-21 in endometrium of women with endometriosis may upregulate the IL-4 gene expression and lead to fibrosis. Further studies may suggest miR-21 and IL-4 as candidates for diagnosis of endometriosis.

Comparing the advantages, disadvantages and diagnostic power of different non-invasive pre-implantation genetic testing: A literature review.

To improve embryo transfer success and increase the chances of live birth in assisted reproductive methods, there is a growing demand for the use of pre-implantation genetic testing (PGT). However, the invasive approaches used in PGT have led to in vitrofertilization failure and abortions, increasing anxiety levels for parents. To address this, non-invasive PGT methods have been introduced, such as the detection of DNA in blastocoel fluid of blastocysts and spent culture media (SCM). These methods have proven to be minimally invasive and effective in detecting aneuploidy in the chromosomes of human embryos. This review aims to explore the different approaches to pre-implantation diagnosis, including invasive and non-invasive methods, with a particular focus on non-invasive PGT (niPGT). The search strategy involved gathering data from scientific databases such as PubMed, Google Scholar, and Science Direct using relevant keywords. The search was conducted until January 2023. In total, 22 studies have successfully reported the detection and amplification of cell-free DNA in the embryonic SCM. It is important to note that niPGT has some limitations, which include differences in indicators such as cell-free DNA amplification rate, concordance, level of maternal DNA contamination, sensitivity, and specificity between SCM samples and biopsied cells. Therefore, more extensive and detailed research is needed to fully understand niPGT's potential for clinical applications.

BAX pro-apoptotic gene alterations in repeated pregnancy loss.

INTRODUCTION: Recurrent pregnancy loss (RPL) is a critical medical problem in about 0.5-2% of women. The molecular genetic background for spontaneous abortion is being increasingly understood, and some polymorphisms associated with it have been reported. This study investigates alterations of the Bax gene as a pro-apoptotic gene in women with idiopathic RPL. MATERIAL AND METHODS: The frequency of mutations in the Bax gene of 67 idiopathic RPL women was studied in comparison to a sample of 70 healthy women. The promoter and the entire coding regions (exons 1-7) were amplified using polymerase chain reaction (PCR). The purity of the PCR product was first verified by electrophoresis on a 2% agarose gel. The amplified fragment was then sequenced by automated DNA sequencing. RESULTS: A statistically significant difference was observed between patients and the control group regarding the frequency of alleles A(-179)G in the Bax promoter region (p= 0.013). Also among patients, G90C and G95A transitions were found in the coding region of exon 1 that change amino acid glutamine (Q) to histidine (H) and arginine (R) to lysine (K), respectively. A statistically significant association was observed between H allele (p = 0.0001) and K allele (p< 0.0001) and the occurrence of RPL. CONCLUSIONS: Our results indicate an association between A(-179)G mutation in the Bax promoter and RPL. Moreover, two polymorphisms, G90C and G95A in exon 1, found among our patients, could be considered as genetic factors making people susceptible to miscarriages. According to our findings, the Bax gene has an important role in pregnancy loss and the variations of this gene could help in the assessment of RPL.