Systems Biology in Reproductive Medicine最新文献

{"title":"Novel homozygous missense variants in <i>SUN5</i> and <i>DNAH10</i> associated with male infertility and oligoasthenoteratozoospermia.","authors":"Qi Fang, Lanxi Ran, Xinying Bi, Song Liu, Jing Wang, Tengyan Li, Jianyong Di, Ye Liu, Fengqin Xu, Binbin Wang","doi":"10.1080/19396368.2025.2500591","DOIUrl":"https://doi.org/10.1080/19396368.2025.2500591","url":null,"abstract":"<p><p>Genetic variants are known causes of male infertility and oligoasthenoteratozoospermia (OAT), as shown by knockout mouse models and patients with infertility. However, most OAT cases lack a definitive genetic diagnosis. Peripheral blood and semen samples were collected from a patient with OAT. Semen analysis, Papanicolaou staining, transmission electron microscopy, whole-exome sequencing (WES), Sanger sequencing, and <i>in silico</i> analyses, such as conservative analysis and conformational analyses, were used to investigate the genetic causes of OAT. Semen analysis revealed a notable reduction in sperm count and motility, and defects in sperm morphology. Light and electron microscopy showed numerous defects in the head-to-tail coupling apparatus of the sperm, and a small number of structural defects in the sperm flagella. WES identified two novel homozygous missense variants <i>SUN5</i>: c.G703A/p.A235T and <i>DNAH10</i>: c.A1436G/p.Q479R. The p.A235T and p.Q479R variants were predicted to generate aberrant SUN5 and DNAH10 proteins using <i>in silico</i> analysis. Here, we report the identification of two novel deleterious variants of <i>SUN5</i> and <i>DNAH10</i> associated with OAT, expanding the mutant spectrum of male infertility.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"190-195"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144080470","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":"SBiRM: future innovation and practice in Personalized and Precision Reproductive Medicine.","authors":"Stephen A Krawetz, B Charlotte","doi":"10.1080/19396368.2024.2447691","DOIUrl":"https://doi.org/10.1080/19396368.2024.2447691","url":null,"abstract":"","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"1"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143034211","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":"Diagnostic accuracy of plasma microRNA as a potential biomarker for detection of endometriosis.","authors":"Seyed Danial Mohammadi, Ashraf Moeini, Tayebeh Rastegar, Fardin Amidi, Mojtaba Saffari, Shahrzad Zhaeentan, Setareh Akhavan, Behnaz Moradi, Faezeh Heydarikhah, Nasrin Takzare","doi":"10.1080/19396368.2025.2465268","DOIUrl":"10.1080/19396368.2025.2465268","url":null,"abstract":"<p><p>Endometriosis is a complex condition with a wide range of clinical manifestations, presenting significant challenges, particularly for young women. Its diverse and often perplexing presentations pose difficulties within the medical community. Laparoscopy remains the gold-standard diagnostic tool for endometriosis. However, alternative diagnostic methods are valuable for monitoring disease progression, assessing the likelihood of recurrence, reducing the need for surgical procedures, and facilitating timely decisions regarding fertility concerns. Recent research highlights the potential of microRNAs (miRNAs) as an alternative diagnostic test for endometriosis. A case-control study was conducted at the infertility unit of Arash Women's Hospital, involving 50 female participants, 25 with endometriosis and 25 without it. Plasma samples were collected and analyzed for the expression levels of 16 miRNAs using quantitative reverse transcription polymerase chain reaction (qRT-PCR). Diagnostic accuracy measures were evaluated to establish a reliable and comparable diagnostic framework. Compared to the control group, downregulation of 11 miRNAs and upregulation of 5 miRNAs were observed in the case group. Regarding expression patterns, evidence from this study indicates that half of the evaluated miRNAs fall into the high-agreement category with similar studies. Sensitivity (SN) of the evaluated miRNAs ranged from 64.0% to 88.0%, while specificity (SP) ranged from 56.0% to 88.0%. The area under the curve (AUC) was reported between 0.619 (miR-135a) and 0.846 (miR-340). These findings suggest that the evaluated miRNAs demonstrate moderate to acceptable diagnostic accuracy for endometriosis.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"71 1","pages":"61-75"},"PeriodicalIF":2.1,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143575988","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":"Identification of candidate genes for endometrial cancer in multi-omics: a Mendelian randomization analysis.","authors":"Lan-Hui Qin, Chongze Yang, Rui Song, Pei-Yin Chen, Zijian Jiang, Weihui Xu, Guanzhen Zeng, Jin-Yuan Liao, Liling Long","doi":"10.1080/19396368.2024.2411458","DOIUrl":"https://doi.org/10.1080/19396368.2024.2411458","url":null,"abstract":"<p><p>Endometrial cancer is the most common malignant tumor of the uterus, but the underlying genetic mechanisms of EC remain unclear. To identify candidate genes and investigate genetic mechanisms for endometrial cancer, we utilized the summary-data-based Mendelian randomization (SMR) method to investigate causal associations between genetic variants, gene expression, DNA methylation, and endometrial cancer. Three main analyses were conducted utilizing cis-expression and methylation quantitative trait loci (eQTLs and mQTLs) as instrumental variables to examine causal relationships with endometrial cancer, and assessing the causal relationship between DNA methylation and gene expression. Data sources included genetic association data from O'Mara et al. eQTL data from the GTEx database, and mQTL data from McRae et al. Analysis involved the HEIDI test to distinguish pleiotropy, SMR analysis with multiple testing correction, and colocalization analysis to assess associations driven by linkage disequilibrium. Functional enrichment analysis was performed by the Metascape tool. Our study showed that three genes, SNX11, LINC00243, and EVI2A, were identified as causally related to endometrial cancer. SNX11 exhibited a positive causal relationship, while LINC00243 and EVI2A showed negative ones. Furthermore, 24 CpG sites were identified as causally related to endometrial cancer, with cg14424631 (CYP19A1) being the most significant. The study revealed common genes implicated in endometrial cancer, gene expression, and methylation sites, with LINC00243 playing a key role. Colocalization analysis confirmed significant causal relationships between LINC00243, SNX11, and endometrial cancer. Enrichment analysis uncovered pathways like interferon gamma signaling enriched in both endometrial cancer GWAS and e/mQTL. These findings shed light on the molecular mechanisms underlying endometrial cancer development. The study identified candidate genes and DNA methylation loci causally associated with endometrial cancer, which are expected to serve as potential targets for treatment.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"299-311"},"PeriodicalIF":2.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475313","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":"Classification of idiopathic recurrent spontaneous miscarriage using FTIR and Raman spectroscopic fusion technology.","authors":"Dadoma Sherpa, Chiranjib Bhowmick, Tummala Pavan, Dhruva Abhijit Rajwade, Sumana Halder, Imon Mitra, Sunita Sharma, Pratip Chakraborty, Sanjukta Dasgupta, Koel Chaudhury","doi":"10.1080/19396368.2024.2384386","DOIUrl":"https://doi.org/10.1080/19396368.2024.2384386","url":null,"abstract":"<p><p>Recurrent spontaneous miscarriage refers to the repeated loss of two or more clinically detected pregnancies occurring within 24 weeks of gestation. No identifiable cause has been identified for nearly 50% of these cases. This group is referred to as idiopathic recurrent spontaneous miscarriage (IRSM) or miscarriage of unknown origin. Due to lack of robust scientific evidence, guidelines on the diagnosis and management of IRSM are not well defined and often contradictory. This motivates us to explore the vibrational fingerprints of endometrial tissue in these women. Endometrial tissues were collected from women undergoing IRSM (<i>n</i> = 20) and controls (<i>n</i> = 20) corresponding to the window of implantation. Attenuated total reflectance-Fourier transform infrared (ATR-FTIR) spectra were obtained within the range of 400-4000 cm^-1 using Agilent Cary 630 FTIR spectrometer. Raman spectra were also generated within the spectral window of 400-4000 cm^-1 using Thermo Fisher Scientific, DXR Raman spectrophotometer. Based on the limited molecular information provided by a single spectroscopic tool, fusion strategy combining Raman and ATR-FTIR spectroscopic data of IRSM is proposed. The significant features were extracted applying principal component analysis (PCA) and wavelet threshold denoising (WTD) and fused spectral data used as input into support vector machine (SVM), adaptive boosting (AdaBoost) and decision tree (DT) models. Altered molecular vibrations associated with proteins, glutamate, and lipid metabolism were observed in IRSM using Raman spectroscopy. FTIR analysis indicated changes in the molecular vibrations of lipids and proteins, collagen dysregulation and impaired glucose metabolism. Combination of both spectroscopic data using mid-level fusion (MLF: 92% using AdaBoost and DT models) and high-level fusion (HLF: 92% using SVM models) methods showed improved IRSM classification accuracy as compared to individual spectral models. Our results indicate that spectral fusion technology hold promise in enhancing diagnostic accuracy of IRSM in clinical settings. Validation of these findings in a larger patient population is underway.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"228-239"},"PeriodicalIF":2.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141992389","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":"Engineered exosome as a biological nanoplatform for drug delivery of Rosmarinic acid to improve implantation in mice with induced endometritis.","authors":"Morteza Taravat, Reza Asadpour, Razi Jafari Jozani, Amir Fattahi, Monireh Khordadmehr, Hamed Hajipour","doi":"10.1080/19396368.2024.2306420","DOIUrl":"10.1080/19396368.2024.2306420","url":null,"abstract":"<p><p>Endometritis is an inflammatory and histopathologic disease in uterine tissues that interferes with the proper decidualization and implantation of the embryo. In this study, rosmarinic acid (RA) is used as an anti-inflammatory agent that encapsulates in exosomes and is used to attenuate lipopolysaccharide (LPS)-induced endometritis and improve implantation. For this purpose, exosomes were loaded with RA and then administrated into the animal groups, including RA, exosome, RA plus exosome (RA + Exo), and RA-loaded exosomes (RALExo) groups. The concentrations of RA or exosomes used in this study were 10 mg/kg, and the compounds were injected into the uterine horn 24 h following the induction of endometritis. Upon the presence of inflammation detected by the histopathological method, the most proper groups were mated with male mice. The effect of the treatment group on the implantation rate, progesterone levels, and gene expressions were assessed by Chicago Blue staining, enzyme-linked immunosorbent assay (ELISA), and Quantitative PCR (qPCR), respectively. Results showed RALExo10 and RA10 + Exo10 groups improved pathological alterations, enhanced progesterone levels, increased implantation rate, as well as heightened expression levels of Leukemia inhibitory factor (LIF) and Mucin-16 (<i>MUC-16</i>) genes. Besides, the expression levels of inflammatory cytokines, including Transforming growth factor-β (TGF-β), Interlukine-10 (IL-10), Interlukine-15 (IL-15), and Interlukine-18 (IL-18), were regulated. Our findings indicated that the expression of LIF, <i>Muc-16</i> genes as well as IL<i>-</i>18, were significantly correlated with serum progesterone concentrations and the implantation rate in the treatment groups. The RALExo10 and RA10 + Exo10 groups showed ameliorated implantation rates in experimental groups.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"3-19"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139698365","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":"In vitro fertilization, intracytoplasmic sperm injection, in vitro maturation, and embryo culture.","authors":"Leah Cooper, Emma Manuel, Min Xu, Samantha B Schon","doi":"10.1080/19396368.2024.2439838","DOIUrl":"https://doi.org/10.1080/19396368.2024.2439838","url":null,"abstract":"<p><p>Infertility is a highly prevalent disease affecting 1 in 6 couples worldwide. While there are numerous treatment options available to treat infertility, <i>in vitro</i> fertilization (IVF) is the most successful therapy available. IVF traditionally involves superovulation of the ovaries followed by ultrasound (US)-guided oocyte retrieval, fertilization of oocytes <i>in vitro,</i> and culture of resultant embryos. Embryo(s) are then either transferred into the uterus or cryopreserved. There have been tremendous advances in each step of this process over the past 40 years, however, much work still remains to be done. This review discusses the history and current techniques involved in oocyte fertilization and embryo culture. Highlighted areas include conventional insemination and intracytoplasmic sperm injection (ICSI), embryo culture, and laboratory assessment. Areas of past and present research including time-lapse imaging and <i>in vitro</i> maturation are also discussed.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"312-328"},"PeriodicalIF":2.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898295","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":"piRNA expression patterns in high vs. low fertility bovine sperm.","authors":"Nicholas Werry, Stewart J Russell, Raamkumaar Sivakumar, Sarah Miller, Katie Hickey, Steven Larmer, Michael Lohuis, Clifford Librach, Jonathan LaMarre","doi":"10.1080/19396368.2024.2364742","DOIUrl":"https://doi.org/10.1080/19396368.2024.2364742","url":null,"abstract":"<p><p>PIWI-interacting RNAs (piRNAs) are 24-32 nucleotide RNA sequences primarily expressed in germ cells and developing embryos that suppress transposable element expression to protect genomic integrity during epigenetic reprogramming events. We characterized the expression of piRNA sequences and their encoding clusters in sperm samples from an idiopathic fertility model of Holstein bulls with high and low Sire Conception Rates. The piRNA populations were determined to be mostly similar between fertility conditions when investigated by principal component and differential expression analysis, suggesting that a high degree of conservation in the piRNA system is likely necessary for the production of viable sperm. Both fertility conditions demonstrated evidence of 'ping-pong' activity - a secondary biogenesis pathway associated with active transposable element targeting and suppression. Most sperm-borne piRNAs were between 29-30 nucleotides in length and originated from 226 clusters across the genome, with the exception of chromosome 20. Mapping analysis revealed abundant targeting of several transposable element families, suggesting a suppressive function of sperm piRNAs consistent with their established roles. Expression of genes targeted by sperm-borne piRNAs is significantly reduced throughout early embryogenesis compared to the mRNA population. Limited transposable element expression is known to be essential for spermatogenesis, thus epigenetic regulation of this pathway is likely to influence sperm quality and fertilizing capacity.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"183-194"},"PeriodicalIF":2.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459483","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":"Preimplantation genetic testing as a preventive strategy for the transmission of mitochondrial DNA disorders.","authors":"Xinpeng Lan, Wu Liji Ao, Ji Li","doi":"10.1080/19396368.2024.2306389","DOIUrl":"10.1080/19396368.2024.2306389","url":null,"abstract":"<p><p>Mitochondrial diseases are distinct types of metabolic and/or neurologic abnormalities that occur as a consequence of dysfunction in oxidative phosphorylation, affecting several systems in the body. There is no effective treatment modality for mitochondrial disorders so far, emphasizing the clinical significance of preventing the inheritance of these disorders. Various reproductive options are available to reduce the probability of inheriting mitochondrial disorders, including <i>in vitro</i> fertilization (IVF) using donated oocytes, preimplantation genetic testing (PGT), and prenatal diagnosis (PND), among which PGT not only makes it possible for families to have genetically-owned children but also PGT has the advantage that couples do not have to decide to terminate the pregnancy if a mutation is detected in the fetus. PGT for mitochondrial diseases originating from nuclear DNA includes analyzing the nuclear genome for the presence or absence of corresponding mutations. However, PGT for mitochondrial disorders arising from mutations in mitochondrial DNA (mtDNA) is more intricate, due to the specific characteristics of mtDNA such as multicopy nature, heteroplasmy phenomenon, and exclusive maternal inheritance. Therefore, the present review aims to discuss the utility and challenges of PGT as a preventive approach to inherited mitochondrial diseases caused by mtDNA mutations.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"38-51"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139698367","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":"Effects of first and second division modes on euploidy acquisition in human embryo.","authors":"Yamato Mizobe, Yukari Kuwatsuru, Yuko Kuroki, Yumiko Fukumoto, Mari Tokudome, Harue Moewaki, Tokiko Iwakawa, Kazuhiro Takeuchi","doi":"10.1080/19396368.2024.2311643","DOIUrl":"10.1080/19396368.2024.2311643","url":null,"abstract":"<p><p>The aim of this study was to non-invasively investigate euploid embryos using methods other than pre-implantation genetic testing for aneuploidy. The study focused on direct cleavage (DC) observed during early embryo development. We also investigated the relationship between the mode of early embryo division and embryo ploidy. Embryos were divided into the normal cleavage (NC) and DC groups, and the DC group was further subdivided into the DC-First (DC-F) and DC-Second (DC-S) groups, depending on whether DC was observed at the first or second cleavage, respectively. The acquisition rates of euploid embryos and embryos appropriate for transfer were compared between the groups. Our results revealed that the timing of the first division did not differ between blastocyst grades or in embryos with varying degrees of ploidy. Further, the timing of the first cleavage did not affect the acquisition rate of embryos appropriate for transfer and euploid embryo formation rate did not significantly differ between the DC and NC groups. We also noted that for embryos appropriate for transfer, euploidy acquisition rate did not differ significantly between the DC and NC groups. Further, the euploidy acquisition rate of embryos did not differ between the DC-F and DC-S groups. However, the acquisition rate of embryos appropriate for transfer, including those with low mosaicism, was significantly higher in the DC-S group than in the DC-F group. These findings indicated that the number of good-quality blastocysts formed was significantly higher in the NC group than in the DC group and the acquisition rate of embryos appropriate for transfer, including those with low mosaicism, was significantly higher in the DC-S group than in the DC-F group.</p>","PeriodicalId":22184,"journal":{"name":"Systems Biology in Reproductive Medicine","volume":"70 1","pages":"52-58"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139997487","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}