Endometriosis is a common and painful condition affecting women of reproductive age. While the underlying pathophysiology is still largely unknown, much advancement has been made in understanding the progression of the disease. In recent years, a great deal of research has focused on non-invasive diagnostic tools, such as biomarkers, as well as identification of potential therapeutic targets. In this article, we will review the etiology and cellular mechanisms associated with endometriosis as well as the current diagnostic tools and therapies. We will then discuss the more recent genomic and proteomic studies and how these data may guide development of novel diagnostics and therapeutics. The current diagnostic tools are invasive and current therapies primarily treat the symptoms of endometriosis. Optimally, the advancement of “-omic” data will facilitate the development of non-invasive diagnostic biomarkers as well as therapeutics that target the pathophysiology of the disease and halt, or even reverse, progression. However, the amount of data generated by these types of studies is vast and bioinformatics analysis, such as we present here, will be critical to identification of appropriate targets for further study.
Study Objective: To develop a prototype of a complex gene expression biomarker for the diagnosis of endometriosis on the basis of differences between the molecular signatures of the endometrium from women with and without endometriosis. Design: Prospective observational cohort study. Evidence obtained from a well-designed, controlled trial without randomization.
Objective: To investigate transcriptional alterations in human semen samples associated with COVID-19 infection. Design: Retrospective observational cohort study. Setting: City hospital. Patient(s): Ten patients who had recovered from mild COVID-19 infection. Eight of these patients had different sperm abnormalities that were diagnosed before infection. The control group consisted of 5 healthy donors without known abnormalities and no history of COVID-19 infection. Intervention(s): We used RNA sequencing to determine gene expression profiles in all studied biosamples. Original standard bioinformatic instruments were used to analyze activation of intracellular molecular pathways. Main Outcome Measure(s): Routine semen analysis, gene expression levels, and molecular pathway activation levels in semen samples. Result(s): We found statistically significant inhibition of genes associated with energy production pathways in the mitochondria, including genes involved in the electron transfer chain and genes involved in toll-like receptor signaling. All protein-coding genes encoded by the mitochondrial genome were significantly down-regulated in semen samples collected from patients after recovery from COVID-19. Conclusion(s): Our results may provide a molecular basis for the previously observed phenomenon of decreased sperm motility associated with COVID-19 infection. Moreover, the data will be beneficial for the optimization of preconception care for men who have recently recovered from COVID-19 infection. (Fertil Steril Sci Ò 2021;2:355-64. Ó2021 by American Society for Reproductive Medicine.
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