Systems Biology in Reproductive Medicine最新文献

{"title":"Aquaporin 9 regulates Leydig cell steroidogenesis in diabetes","authors":"Arun K. Kannan, Lezy Flora Mariajoseph-Antony, Antojenifer Panneerselvam, Chithra Loganathan, Diwakar Kiduva Jothiraman, K. Anbarasu, C. Prahalathan","doi":"10.1080/19396368.2022.2033350","DOIUrl":"https://doi.org/10.1080/19396368.2022.2033350","url":null,"abstract":"Abstract Diabetes mellitus induced hyperglycemia increases oxidative stress, which contributes to impairment of male reproductive function. Aquaporins (AQPs) belong to a transmembrane protein superfamily containing 13 isoforms (AQP0-12), differentially expressed in various organs, and play a pivotal role in male reproductive function. In the current study, we investigated the relationship between AQPs and testicular steroidogenesis under hyperglycemia in vivo and in vitro. The effect of high glucose on the role of AQPs in Leydig cell steroidogenesis was analyzed in diabetic rats (in-vivo) and LC540 rat Leydig cells (in vitro) via enzyme assays, quantitative RT-PCR, siRNA knock down and western blotting. AQP 9 was significantly up-regulated in STZ-induced diabetic rat testis and high glucose treated LC540 cells. Further, oxidative stress marker nuclear factor erythroid 2-related factor 2 (Nrf2) expression was decreased with impaired testicular steroidogenesis under hyperglycemia. Knock-down of AQP 9 resulted in increased Nrf2 expression and thus increased testicular steroidogenesis in hyperglycemia. Diabetes-associated hyperglycemia induced oxidative stress is a widely proven cause for diabetes-related male infertility. Our results collectively suggest that AQP 9 impairs testicular steroidogenesis via the regulation of oxidative stress in diabetes.","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42145243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Racial/ethnic disparities in infertility treatment utilization in the US, 2011–2019","authors":"Deepa Dongarwar, Vicki Mercado-Evans, Sylvia Adu-Gyamfi, Mei-Li Laracuente, H. Salihu","doi":"10.1080/19396368.2022.2038718","DOIUrl":"https://doi.org/10.1080/19396368.2022.2038718","url":null,"abstract":"Abstract With delayed child-bearing age, there has been an increase in infertility rates globally and in the United States (US). Unsurprisingly, there has been a concomitant substantial increase in the number of individuals seeking infertility treatments over the last decade. This study aimed to examine the relationship between race/ethnicity and the utilization of different infertility treatments over the previous decade. We conducted this retrospective cohort study using the United States (US) Birth data files 2011–2019. We calculated the rates of infertility treatment and its subtypes over the study period. Descriptive statistics were utilized to examine the sociodemographic and birth characteristics for overall births and those associated with any infertility treatment and each of its subtypes. We calculated the level of association between race/ethnicity and utilization of infertility treatment and the subtypes using adjusted logistic regression models. We found that the rate of infertility treatments for all subtypes considered, had steadily increased by 63.7% within the past decade. In contrast, fertility enhancing drugs or Intrauterine Insemination (IUI) increased by 134%, and in vitro fertilization (IVF), gamete intrafallopian transfer (GIFT), and zygote intrafallopian transfer (ZIFT) treatments increased by 40% over the 9-year study period. Non-Hispanic (NH) Asian women had the highest rate of any infertility treatment with a rate of 25 per 1000 births whereas Hispanic women had the lowest rate of any infertility treatment at 5.8 per 1000 births. When compared with NH-White women, NH-Asian women had a modest 7% lower likelihood (OR = 0.93, 95% CI = 0.92–0.94) of receiving any infertility treatment while NH-Black and Hispanic women had about 70% lower likelihood of receiving any infertility treatment. Our report of increased assisted reproductive technology (ART) utilization rates, and marked racial/ethnic differences in ART utilization highlight the importance of expanding knowledge of inequities that continue to impact marginalized groups, a critical step for informing actionable strategy formulations (i.e., advocacy, policy change, patient education, provider training) to address these inequities.","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45704445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regulation of STUB1 expression and its biological significance in mouse Sertoli cells","authors":"Tao Li, Chao Zheng, W. Han, Zhen-Zhen Chen","doi":"10.1080/19396368.2022.2027554","DOIUrl":"https://doi.org/10.1080/19396368.2022.2027554","url":null,"abstract":"Abstract STIP1 Homology and U-Box Containing Protein 1 (STUB1), a ubiquitin E3 ligase initially involved in immune responses, has recently emerged as a pleiotropic regulator of different biological systems, including skeletal and male reproduction systems. On the latter, a homozygous mutation in the STUB1 gene has been identified in patients with hypogonadism. However, the pattern of expression and biological actions of STUB1 in testis remains so far unexplored. Herein, we report analyses on the testicular expression of STUB1 in human testes with impaired spermatogenesis and paracrine regulation of STUB1 expression in mouse testis development and the direct effects of ablation STUB1 on Sertoli cell (SC) functions. STUB1 was expressed abundantly in pachytene spermatocytes and SCs, and weakly in spermatogonia and differentiating spermatids in normal human testis. In contrast, Sertoli-specific expression of STUB1 was significantly decreased in the human testes with impaired spermatogenesis. Throughout postnatal development of mouse testis, however, STUB1 was expressed exclusively in the nuclei of the functionally mature SCs. The adjacent germ cell (GC)-derived IL-1α overtly regulated STUB1 expression through promoting the ETS domain transcription factor Elk-1 (ELK1)-mediated transactivation. Importantly, ablation of endogenous STUB1 caused lipid accumulation and senescence in GC co-incubated SCs. Together with previous reports on the stimulatory effects of IL-1α on cell senescence, our findings suggest that STUB1 may serve as an important negative feedback signaling to modulate the magnitude of GCs-derived IL-1α, which is normally maintained at low levels within testis.","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47400570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is there a role for small molecule metabolite biomarkers in the development of a diagnostic test for endometriosis?","authors":"Nicola E Tomkins, J. Girling, B. Boughton, S. Holdsworth-Carson","doi":"10.1080/19396368.2022.2027045","DOIUrl":"https://doi.org/10.1080/19396368.2022.2027045","url":null,"abstract":"Abstract Endometriosis is a disease defined by the presence of benign lesions of endometrial-like glands and stroma outside the endometrial cavity. Affecting an estimated 11.4% of Australian women, symptoms include chronic pelvic pain, dysmenorrhea and infertility. The current gold standard of diagnosis requires an expensive and invasive laparoscopic surgery, resulting in delayed time to treatment. The identification of a non-invasive endometriosis biomarker – a measurable factor correlating with disease presence or activity – has therefore become a priority in endometriosis research, although no biomarker has yet been validated. As small molecule metabolites and lipids have emerged as a potential focus, this review with systematic approach, aims to summarize studies examining metabolomic biomarkers of endometriosis in order to guide future research. EMBASE, PubMed and Web of Science were searched using keywords: lipidomics OR metabolomics OR metabolome AND diagnostic tests OR biomarkers AND endometriosis, and only studies written in English from August 2000 to August 2020 were included. Twenty-nine studies met inclusion and exclusion criteria and were included. These studies identified potential biomarkers in serum, ectopic tissue, eutopic endometrium, peritoneal fluid, follicular fluid, urine, cervical swabs and endometrial fluid. Glycerophospholipids were identified as potential biomarkers in all specimens, except urine and cervical swab specimens. However, no individual molecule or metabolite combination has reached clinical diagnostic utility. Further research using large study populations with robust patient phenotype and specimen characterisation is required if we are to make progress in identifying and validating a non-invasive diagnostic test for endometriosis.","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42170794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The balance between cell survival and death in the placenta: Do neurotrophins have a role?","authors":"Prachi Pathare-Ingawale,&nbsp;Preeti Chavan-Gautam","doi":"10.1080/19396368.2021.1980132","DOIUrl":"https://doi.org/10.1080/19396368.2021.1980132","url":null,"abstract":"<p><p>Neurotrophins (NT) are a closely related family of growth factors, which regulate the nervous system's development, maintenance, and function. Although NTs have been well studied in neuronal cells, they are also expressed in the placenta. Despite their suggested role in regulating fetoplacental development, their precise functional significance in the placenta remains elusive. NT activate two different classes of receptors. These include the Trk, tropomyosin-related kinase family of high-affinity tropomyosin-related kinase receptors, which induces cell survival, and the p75NTR, p75 neurotrophin receptor, a member of the tumor necrosis factor(TNF) receptor superfamily, which induces apoptosis in neuronal cells. Mature NT molecule results from proteolysis of a biologically active precursor form called pro-neurotrophins (pro-NT) by the intracellular proprotein convertase or furin. Pro-NTs have a regulatory role in determining cell survival and apoptosis. Here, we review the literature on the expression and functions of NTs and their receptors in the placenta and discuss their possible role in placental tissue development and apoptosis. The possible implications of imbalance in pro-NT and mature-NT levels for fetoplacental development are also discussed.<b>Abbreviations</b> AGE/ALEs: Advanced glycation/lipoxidation end products; Bax: Bcl 2 Associated X; Bcl-2: B-cell lymphoma 2; BDNF: Brain-derived neurotrophic factor; FAS/FASL: Fas cell surface death receptor/ ligand; IUGR: Intrauterine growth restriction; JNK: c-Jun amino-terminal kinase; MAP: mitogen-activated protein k; mRNA: Messenger ribonucleic acid; NGF: Nerve growth factor; NT: Neurotrophins; NRAGE: Neurotrophin receptor-interacting MAGE homolog; NRIF: Neurotrophin receptor interacting factor; PE: Preeclampsia; PI3k: Phosphoinositide 3- kinase; PLC: Phospholipase C; p75NTR: p75 neurotrophin receptor; Pro-NT: Pro-neurotrophins; PTB: Preterm birth; p53: Tumor protein p53; TNF: Tumor necrosis factor; TRAF: TNFR-associated factors; Trk: Tropomyosin-related kinase; siRNA: small interfering ribonucleic acid.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39490980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cumulus cell acetyl-CoA metabolism from acetate is associated with maternal age but only partially with oocyte maturity.","authors":"Sharon Anderson,&nbsp;Peining Xu,&nbsp;Alexander J Frey,&nbsp;Jason R Goodspeed,&nbsp;Mary T Doan,&nbsp;John J Orris,&nbsp;Nicolle Clements,&nbsp;Michael J Glassner,&nbsp;Nathaniel W Snyder","doi":"10.1080/19396368.2021.2003479","DOIUrl":"https://doi.org/10.1080/19396368.2021.2003479","url":null,"abstract":"<p><p>Cumulus cell (CC) clumps that associate with oocytes provide the oocytes with growth and signaling factors. Thus, the metabolism of the CCs may influence oocyte function, and CC metabolism may be predictive of oocyte competence for in vitro fertilization. CCs are thought to be highly glycolytic, but data on the use of other potential carbon substrates are lacking in humans. This prospective and blinded cohort study was designed to examine the substrate utilization of CCs by age and oocyte competence. Individual sets of CC clumps from participants were removed after oocyte retrieval procedure then, incubated with stable isotope labeled substrates, and analyzed using liquid chromatography-high resolution mass spectrometry (LC-HRMS) for isotopologue enrichment of major metabolic intermediates, including acetyl-CoA. The acyl-chain of acetyl-CoA contains 2 carbons that can be derived from ¹³C-labeled substrates resulting in an M + 2 isotopologue that contains 2 ¹³C atoms. Comparing the fate of three major carbon sources, mean enrichment of M + 2 acetyl-CoA (mean, standard deviation) was for glucose (3.6, 7.7), for glutamine (9.4, 6.2), and for acetate (20.7, 13.9). Due to this unexpected high and variable labeling from acetate, we then examined acetyl-CoA mean % enrichment from acetate in 278 CCs from 21 women ≤34 (49.06, 12.73) decreased with age compared to 124 CCs from 10 women >34 (43.48, 16.20) (p = 0.0004, t-test). The CCs associated with the immature prophase I oocytes had significantly lower enrichment in M + 2 acetyl CoA compared to the CCs associated with the metaphase I and metaphase II oocytes (difference: -6.02, CI: -1.74,-13.79, p = 0.013). Acetate metabolism in individual CC clumps was positively correlated with oocyte maturity and decreased with maternal age. These findings indicate that CC metabolism of non-glucose substrates should be investigated relative to oocyte function and age-related fertility.<b>Abbreviations:</b> CCs: cumulus cells; COC: cumulus-oocyte complex; LC-MS: liquid chromatography-mass spectrometry; acetyl-CoA: acetyl-Coenzyme A; CoA: Coenzyme A.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821170/pdf/nihms-1766969.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10651339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptional regulation of PEBP1 expression by androgen receptor in mouse testes.","authors":"Qiong Deng,&nbsp;Zhu Wang,&nbsp;Ye Du,&nbsp;Ying Zhang,&nbsp;Hui Liang","doi":"10.1080/19396368.2021.2004471","DOIUrl":"https://doi.org/10.1080/19396368.2021.2004471","url":null,"abstract":"<p><p>Androgen and AR are essential for maintaining spermatogenesis and male fertility. Previous studies have shown that the phosphatidyl ethanolamine binding protein 1 (<i>Pebp1</i>) gene is down-regulated in the selective ablation of the AR in the Sertoli cells of mouse testes compared with wild-type mice, indicating that <i>Pebp1</i> is a candidate target of AR. The ChIP-PCR data and ChIP-sequencing results of this study verified that <i>Pebp1</i> is a target gene regulated by AR. Real-time PCR, Western blot analysis, and immunofluorescence data showed that <i>Pebp1</i> is expressed at all stages of testicular development, with an increasing trend from 1 to 8 weeks of postnatal development. PEBP1 was principally located in the cytoplasm, and high-intensity fluorescence revealed PEBP in the lumen of the testicular tubules. Bioinformatics analysis indicated effective androgen-responsive elements (AREs) located in the promotor of <i>Pepb1</i> gene. Dual fluorescence assay data showed that androgens and AR could bind to the AREs of <i>Pebp1</i> and induce an increase of gene expression. These data suggest that <i>Pepb1</i> is a newfound target gene regulated by androgens and AR in mouse Sertoli cells. However, the detailed molecular mechanism of their role in spermatogenesis still needs to be further studied.<b>Abbreviations:</b> AR: androgen receptor; Pebp1: phosphatidyl ethanolamine binding protein 1; ARKO: androgen receptor knockout; WT: wild type; SCARKO: Sertoli cell-selective androgen receptor knockout; ChIP: chromatin immunoprecipitation; RKIP: Raf kinase inhibitory protein; MAPK: mitogen-activated protein kinase; NF-κB: nuclear factor kappa-light-chain-enhancer of activated B cells; GSK-3: glycogen synthase kinase-3; RT-PCR: reverse transcriptase polymerase chain reaction; SEM: standard error of the mean.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39577815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID CONTINUES, SCIENCE ADVANCES, A NEW YEAR OF SBiRM BEGINS.","authors":"Stephen A Krawetz","doi":"10.1080/19396368.2022.2017733","DOIUrl":"https://doi.org/10.1080/19396368.2022.2017733","url":null,"abstract":"Systems Biology in Reproductive Medicine (SBiRM) brings male and female reproductive medicine and sciences together to reflect each partner’s contribution to the birth and health of the child. The work published in SBiRM reflects the synergy that embraces the breadth of research recognizing our long-standing bench to bedside philosophy. We highlight those contributions that emphasize integrating basic, agricultural, and clinical research for public good. Animal studies and model systems offer insights into what would be considered intractable questions when addressed in human systems. The journal continues its upward trajectory, paralleling the growth of our Editorial Board in step with the interests and breadth of developments represented in the field. SBiRM is pleased to welcome two new Editorial Board members, Dr. Samantha B. Schon, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Michigan, and Dr. Alexander Suvorov, Department of Environmental Health Science, School of Public Health and Health Sciences, University of Massachusetts Amherst. We look forward to including their expertise on the Editorial Board. Two of our Editorial Board members, Drs. Minguez-Alacon and Primig are leaving the Board, and we thank them for their involvement in and support of the journal. We wish both Dr. Minguez-Alacon and Dr. Primig the best in their future endeavors. Last year’s publications were coauthored by several of our Editorial Board members. The first paper of Volume 67 (2021), a review titled ‘COVID-19 and human reproduction: A pandemic that packs a serious punch,’ was initiated and coordinated by Dr. Anifandis with the collaboration of eight additional Board members. Drs. Tempest, Oliva, Simopoulou, Easley, Primig, Turek, Sutovsky, and I were included among the coauthors. The 2021 cover was selected from the paper titled ‘Orchestrating the expression levels of sperm mRNAs reveals CCDC174 as an important determinant of semen quality and bull fertility,’ coauthored by Board member Dr. Selvaraju. Other papers with Board members as coauthors included Dr. Pilsner, ‘Extracellular vesicle cargo of the male reproductive tract and the paternal preconception environment’; Dr. Siristatidis, ‘Investigating the impact of different strategies for endometrial preparation in frozen cycles considering normal responders undergoing IVF/ICSI cycles: a multicenter retrospective cohort study’; Drs. Suvorov, Pilsner, former Board member Hauser, and I, ‘Optimization of small RNA extraction and comparative study of NGS library preparation from low count sperm samples’; Drs. Anifandis and Simopoulou ‘SARS-CoV-2 vs. human gametes, embryos and cryopreservation’; Drs. Oliva and former Board member Miller, ‘Semen sampling as a simple, non-invasive surrogate for prostate health screening’; and Dr. Anifandis, ‘Effect of adiponectin on estradiol and progesterone secretion from human luteinized granulosa cells in vitro.’ The ","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39590368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mucosal biomarkers for endometrial receptivity: A promising yet underexplored aspect of reproductive medicine.","authors":"Mark Jain,&nbsp;Larisa Samokhodskaya,&nbsp;Elena Mladova,&nbsp;Olga Panina","doi":"10.1080/19396368.2021.1985186","DOIUrl":"https://doi.org/10.1080/19396368.2021.1985186","url":null,"abstract":"<p><p>Annually, approximately 2 million assisted reproductive technology (ART) procedures are performed worldwide, of which, only ~25% lead to successful delivery. There are two major factors contributing to successful implantation: embryo quality and endometrial receptivity (ER). Although embryo quality might be assessed through morphological and genetic testing, no clinically approved techniques are available to evaluate ER. Mucus in different parts of the female reproductive tract contains many cytokines, chemokines, growth factors, and nucleic acids, which influence and reflect various implantation-related processes. Therefore, the aim of the present review was to summarize available data regarding noninvasively obtained mucosal biomarkers for ER and to investigate their ability to predict the outcome of ART procedures. A broad literature search was performed to define studies related to noninvasive ER assessments. More than 50 biomarkers detectable in endometrial fluid, embryo transfer cannula leftover cells and mucus, menstrual blood, cervicovaginal washings are discussed herein. The remarkable methodological heterogeneity of the reviewed studies complicates the comparison of their results. Nevertheless, certain promising analytical targets may already be identified, such as urocortin, activin A, IL-1β, TNF-α, IP-10, MCP-1, and several oxidative stress biomarkers. The present review contains a collection of currently available mucosal biomarker-related data, which may provide insights for future studies.<b>Abbreviations:</b> ART: assisted reproductive technology; ER: endometrial receptivity; IVF: <i>in</i> <i>vitro</i> fertilization; ICSI: intracytoplasmic sperm injection; IUI: intrauterine insemination; MeSH: Medical Subject Headings; hDP 200: human decidua-associated protein 200; ET: embryo transfer; IL-18: Interleukin-18; LRG: leucine-rich α2-glycoprotein; ROC: receiver operating characteristic; AUC: area under the ROC-curve; LH: luteinizing hormone; LIF: leukemia inhibitory factor; TNF-α: tumor necrosis factor alpha; IFN-γ: interferon γ; MCP-1: monocyte chemoattractant protein-1; VEGF: vascular endothelial growth factor; SOD: superoxide dismutase; CAT: catalase; LPO: lipid peroxidation; TTG: total thiol groups; TAP: total antioxidant power; CE: chronic endometritis.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39504825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.","authors":"Bin He,&nbsp;Lin Wang,&nbsp;Qiuhua Wu,&nbsp;Xiaobin Wang,&nbsp;Xingzhe Ji,&nbsp;Wenhao Shi,&nbsp;Juanzi Shi,&nbsp;Rong Qiang,&nbsp;Shuai Zhen","doi":"10.1080/19396368.2021.2005718","DOIUrl":"https://doi.org/10.1080/19396368.2021.2005718","url":null,"abstract":"<p><p>This study describes a successful case of preimplantation genetic testing for the monogenic disease (PGT-M) of methylmalonic acidemia (MMA). To avoid the transmission of pathogenic mutations and unnecessary pregnancy termination we applied next-generation sequencing (NGS)-based haplotyping on a couple with a previously deceased MMA offspring. After embryo preparation, all samples were amplified successfully by whole genome amplification. We performed preimplantation genetic testing for aneuploidy (PGT-A) to determine the copy number of embryos' chromosomes. PGT-A results showed five blastocysts (2, 11, 14, 15 and 16) with balanced chromosomes (46, XN). Two techniques were used for PGT-M. Sanger sequencing was used to detect the mutations of <i>MMUT</i> gene directly, and NGS-based single nucleotide polymorphism (SNP) haplotyping was used to distinguish the chromosomes that carried the mutation. Sanger sequencing and NGS-based SNP haplotyping confirmed that samples 2 and 15 carried c.730insTT, samples 11 and 15 carried c.1105 C > T and samples 14 and 16 did not carry any mutation. Thus, blastocyst 14 was transferred into the mother's uterus. After prenatal diagnosis at 18 weeks of gestation, a healthy infant without <i>MMUT</i> mutation was born at full term. This study highlights the efficiency of NGS-based SNP haplotyping for PGT-M of MMA.<b>Abbreviations</b>: MMA: methylmalonic acidemia; MMUT: methylmalonyl-CoA mutase; PGT-M: preimplantation genetic testing for monogenic disease; PGD: preimplantation genetic diagnosis; IVF: in vitro fertilization; ADO: allele dropout; WGA: whole genome amplification; SNP: single nucleotide polymorphism; NGS: next-generation sequencing; PND: prenatal diagnosis; ICSI: intracytoplasmic sperm injection; TE: trophectoderm; DOP-PCR: degenerate oligonucleotide primed polymerase chain reaction; PGT-A: preimplantation genetic testing for aneuploidy; PCR: polymerase chain reaction.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39607005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}