Journal of Assisted Reproduction and Genetics最新文献

{"title":"Biomarkers and diagnostic significance of non-coding RNAs in extracellular vesicles of pathologic pregnancy.","authors":"Cen Tang, Wanqin Hu","doi":"10.1007/s10815-024-03268-6","DOIUrl":"https://doi.org/10.1007/s10815-024-03268-6","url":null,"abstract":"<p><p>Intercellular communication is an important mechanism for the development and maintenance of normal biological processes in all organs, including the female reproductive system. Extracellular vesicles, as important carriers of intercellular communication, contain a variety of biologically active molecules, such as mRNAs, miRNAs, lncRNAs, and circRNAs, which are involved in cell-to-cell exchanges as well as in many physiological and pathological processes in the body. Compared with biomarkers found in tissues or body fluids, extracellular vesicles show better stability due to the presence of their envelope membrane which prevents the degradation of the RNA message in their vesicles. Therefore, the genomic and proteomic information contained in extracellular vesicles can serve as important markers and potential therapeutic targets for female reproductive system-related diseases or placental function. Moreover, changes in the expression of non-coding RNAs (mainly miRNAs, lncRNAs, and circRNAs) in maternal extracellular vesicles can accurately and promptly reflect the progress of female reproductive system diseases. The aim of this review is to collect information on different types of non-coding RNAs with key molecular carriers in female pathologic pregnancies (preeclampsia and recurrent spontaneous abortion), so as to explore the relevant molecular mechanisms in female pathologic pregnancies and provide a theoretical basis for clinical research on the pathogenesis and therapeutic approaches of reproductive system diseases. The current state of the art of exosome isolation and extraction is also summarized.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the diagnostic utility of immune microenvironment-related biomarkers in endometriosis using multidimensional transcriptomic data.","authors":"Qing Tu, Ruiheng Zhao, Ning Lu","doi":"10.1007/s10815-024-03261-z","DOIUrl":"https://doi.org/10.1007/s10815-024-03261-z","url":null,"abstract":"<p><strong>Purpose: </strong>Endometriosis (EMS) is a relatively common gynecological disorder and almost fifty percent of women with EMS suffer from infertility. There are few treatment options for endometriosis, and often recurrences occur following surgery and medication. We aimed to identify potential diagnostic biomarkers for EMS to improve its diagnostic efficiency.</p><p><strong>Methods: </strong>Differential analysis was utilized to choose EMS-associated abnormal miRNAs (DEMIs) and mRNAs (DEMs). ImmuneAI analysis was to evaluate the levels of immune cells in EMS. Next, the weighted gene co-expression network analysis (WGCNA) was utilized to identify the co-expression modules. Random forest and SVM analyses were used to filter the candidate biomarkers and construct the diagnostic model. qRT-PCR was used to test the expression level of the biomarkers.</p><p><strong>Results: </strong>Based on the different analyses, we obtained 32 DEMIs and 516 DEMs and selected 9 abnormal immune cells whose abundance is abnormal in EMS. Next, we identified five co-expression modules associated with these abnormal immune cells. Then, 176 candidate genes which are both miRNA targets and associated with immune cells and aberrantly expressed in EMS were filtered. Subsequently, random forest analysis selected 11 genes as the diagnostic biomarkers and constructed a diagnostic model by SVM. Finally, we demonstrated that 8 of the 11 genes aberrantly expressed and with better diagnostic efficiency in EMS.</p><p><strong>Conclusions: </strong>In total, we identified 11 crucial genes regulated by 8 miRNAs that could serve as promising diagnostic biomarkers for EMS, potentially enhancing disease diagnosis with novel factors.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Behavior, attitude, perception, and knowledge regarding fertility preservation among Chinese pediatric oncologists: a survey in China.","authors":"Yuhua Shan, Chencheng Xu, Jiaoyang Cai, Yirou Wang, Yali Han, Anan Zhang, Bing Zhang, Min Xu, Dapeng Jiang","doi":"10.1007/s10815-024-03270-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03270-y","url":null,"abstract":"<p><strong>Purpose: </strong>Clinical specialists are supposed to inform childhood cancer patients of infertility risk and conduct fertility preservation (FP). However, little is known about whether doctors in China are fully prepared. This study aimed to investigate behavior, attitude, perception, and knowledge regarding FP among pediatric oncological specialists in a nation wide survey, to set the stage for improvements in current clinical practice patterns.</p><p><strong>Methods: </strong>This study was conducted on physicians and surgeons specialized in pediatric oncology using a questionnaire through the WeChat platform. The behavior, attitude, perception, and knowledge were assessed by Likert questions and results were quantified to obtain scores. Data were then described and analyzed using R and GraphPad.</p><p><strong>Results: </strong>Totally 373 specialists in pediatric tumors were included in the analysis. Hematologists, oncological surgeons, and reproductive medicine specialists won most trusts to be responsible for FP job. Most respondents did not have habits of delivering FP information or cooperating with FP specialists during treatment though they were well equipped with FP knowledge and desired for uniform national guideline for FP procedures. The severity of illness was regarded as the primary barrier of FP delivery. When a doctor was more educated and experienced, he was more likely to have better performance in FP. The total score, the knowledge score, and the single score concerning frequency of patients' inquiry showed aggregational trend on geographic distribution.</p><p><strong>Conclusion: </strong>Chinese pediatric oncologists demonstrated unsatisfactory practice behaviors based upon this self-reporting survey, although their attitude towards FP was generally positive.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the effect of lecithin and nanolecithin in repairing membrane damage, maintaining membrane integrity, and improving human sperm function in the freezing-thawing process.","authors":"Sajed Khaledi, Armin Towhidi, Mansoureh Movahedin, Maryam Nikkhah, Iman Halvaei","doi":"10.1007/s10815-024-03258-8","DOIUrl":"https://doi.org/10.1007/s10815-024-03258-8","url":null,"abstract":"<p><strong>Purpose: </strong>Our study aimed to evaluate the effects of lecithin nanoparticles on sperm quality during cryopreservation.</p><p><strong>Methods: </strong>In phase one, sperm-freezing media were prepared with lecithin concentrations (0.5%, 1%, and 2%) and lecithin nanoparticles of various sizes (50-100, 100-200, and ≥ 200 nm). Post-thaw, sperm motility, viability, mitochondrial membrane potential (MMP), lipid peroxidation (measured by malondialdehyde, MDA), and DNA fragmentation were evaluated. In phase two, the acrosomal reaction was assessed in the best and worst-performing groups from phase one. DiI labeling detected interactions between lecithin nanoparticles and the sperm membrane. Field emission scanning electron microscopy (FESEM) examined the sperm membrane's surface structure and lecithin binding sites. Atomic force microscopy (AFM) assessed height differences in the sperm surface layer in the best-performing group from phase one.</p><p><strong>Results: </strong>The group treated with 1% lecithin nanoparticles (50-100 nm) showed significantly increased viability post-thaw compared to other groups, with reduced DNA fragmentation and MDA levels. While motility significantly decreased in all groups compared to before freezing levels, lower concentrations, and smaller particle sizes yielded better results. MMP also significantly decreased across all groups with no significant differences. The acrosomal reaction significantly decreased with 1% lecithin nanoparticles (50-100 nm) compared to the 2% (≥ 200 nm) group. DiI-labeled nanoparticles and FESEM revealed that lecithin nanoparticles primarily bound to and infiltrated the sperm membrane, particularly in the head and postacrosomal regions.</p><p><strong>Conclusions: </strong>Lecithin nanoparticles effectively bind to the sperm membrane, protecting it during the freeze-thaw process and improving sperm viability.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the developmental competence of in vitro-produced mouse embryos cultured under 5 versus 2% O₂ with in vivo-derived blastocysts.","authors":"Jacob Varghese, Brad Link, Ben Wong, Jacob C Thundathil","doi":"10.1007/s10815-024-03267-7","DOIUrl":"https://doi.org/10.1007/s10815-024-03267-7","url":null,"abstract":"<p><strong>Purpose: </strong>The prevalence of infertility in Canada has substantially increased over 30 years, and plateaued success rates of culture systems warrant further optimization for transfer outcomes. In clinical programs, embryos commonly undergo extended culture under 5% O₂ until the blastocyst stage. The aim of this study is to characterize the developmental competence and stress-related responses of embryos cultured under 5 versus 2% O₂ in comparison to in vivo-derived blastocysts. We hypothesized 2% O₂ compromises developmental competence through altered embryonic stress responses and induction of apoptosis-related genes relative to those cultured under 5% O₂ and in vivo-derived blastocysts.</p><p><strong>Methods: </strong>Quantitative measures of development and relative expressions of a cohort of stress-related genes in CD1 mouse zygotes cultured to blastocysts under 5 or 2% O₂ were compared to in vivo-derived embryos. Apoptotic responses were evaluated using an immunofluorescence assay for Caspase-3.</p><p><strong>Results: </strong>The mean percentage of blastocysts developed, and total cell number of embryos derived in vivo or cultured under 5% O₂ was significantly higher than those cultured under 2% O₂. Blastocyst expansion was greatest in embryos cultured under 5% O₂. Stress response genes were significantly upregulated in embryos cultured under 2% O₂, and expression of antioxidant-related genes was significantly lower in cultured versus in vivo-derived embryos. Caspase-3 immunofluorescence was significantly higher in cultured embryos versus in vivo-derived embryos.</p><p><strong>Conclusion: </strong>We inferred that 5% O₂ systems better approximate physiologic oxygen availability for culture of mouse embryos, warranting re-evaluation of culturing embryos under threshold or sub-physiologic oxygen concentrations during clinical IVF programs.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Single Sperm RNA signatures reveal MicroRNA biomarkers for male subfertility.","authors":"Masood Abu-Halima, Ulrike Fischer, Mohammad A Al Smadi, Nicole Ludwig, Anissa Acheli, Annika Engel, Hashim Abdul-Khaliq, Eckart Meese","doi":"10.1007/s10815-024-03264-w","DOIUrl":"https://doi.org/10.1007/s10815-024-03264-w","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate small RNA profiles in sperm, identify stable miRNA patterns unique to sperm, and assess the behavior of consistently expressed miRNAs in sperm from subfertile men compared to fertile controls.</p><p><strong>Methods: </strong>The small RNA profiles of single sperm from four proven fertile men were analyzed using Small RNA next-generation sequencing (NGS). Subsequently, a specific set of miRNAs was validated using RT-qPCR on additional sperm samples from 65 subfertile men from an infertility clinic and 30 proven fertile men.</p><p><strong>Results: </strong>Small RNA sequencing revealed a diverse range of sperm small RNA biotypes, including miRNAs. The mapped read percentage ranged from 22.19% for single sperm to 83.29% for enriched sperm samples used at different RNA concentrations. In single sperm, a smaller proportion of sequences were attributed to piRNAs (2.79%), miRNA (0.94%), tRNA (0.82%), and rRNA (0.47%) compared to enriched sperm samples, where piRNA (41.68%), tRNA (20.31%), miRNA (11.11%), and rRNA (6.54%) were observed. Distinct detection rates and a higher number of detected miRNAs were noted with enriched sperm samples compared to single sperm obtained using either a micromanipulator or microdissection systems. Among the identified miRNAs, 110 were consistently present in all samples. RT-qPCR revealed 15 miRNAs with increased expression and 5 miRNAs with decreased expression in sperm samples from subfertile men compared to proven fertile men. These differentially validated miRNAs were significantly correlated, either positively or negatively, with sperm count, motility, and morphology.</p><p><strong>Conclusion: </strong>The study extensively examines small RNAs in single sperm, identifying sperm-specific miRNAs that could serve as molecular markers to distinguish between subfertile and fertile men in clinical settings.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CATSPER2 and SPEF2 are potential molecular markers for boar sperm quality: a population association study.","authors":"Zulfiqar Ahmed, Min Liu, Shuntao Huang, Dequan Xu","doi":"10.1007/s10815-024-03252-0","DOIUrl":"https://doi.org/10.1007/s10815-024-03252-0","url":null,"abstract":"<p><strong>Purpose: </strong>This study investigates the role of cation channel sperm associated 2 (CATSPER2) and sperm flagella 2 (SPEF2) genes in boar spermatogenesis, focusing on their association with sperm quality traits in boars.</p><p><strong>Methods: </strong>Utilizing targeted next-generation sequencing, we identified and genotyped two polymorphisms in CATSPER2 (rs341636020G > A, rs326912346G > T) and three variants in SPEF2 (rs320839956A > G, rs334209514C > A, rs325319860C > T) across three boar breeds (Duroc, n = 181; Landrace, n = 87; Large White, n = 52).</p><p><strong>Results: </strong>Our results confirmed the presence of the specified single nucleotide polymorphisms (SNPs), adhering to association study criteria. In CATSPER2, significant associations were detected between rs341636020G > A and sperm curvilinear velocity (VCL) in Duroc and Landrace boars, and between rs326912346G > T and straight velocity (VSL) in Duroc and Large White boars. For SPEF2, rs320839956A > G was significantly linked to sperm viability in Duroc and Landrace and to sperm concentration (SCON) in Large White boars. Additionally, rs334209514C > A and rs325319860C > T showed significant associations with SCON and VCL respectively, in Doruc and Landrace boars.</p><p><strong>Conclusions: </strong>Overall, our findings suggest that CATSPER2 and SPEF2 SNPs significantly impact boar sperm quality traits. These genetic markers have the potential to enhance boar fertility through selective breeding programs, contributing to the optimization of reproductive performance in pigs.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with decision outcomes along the planned oocyte cryopreservation pathway in a cohort of women who sought consultation before and during the COVID-19 pandemic.","authors":"Samantha Yee, Maryam Fatima, Rima Kharonsky, Amar A Mamone, Laura A Rotondo, Clifford L Librach","doi":"10.1007/s10815-024-03255-x","DOIUrl":"https://doi.org/10.1007/s10815-024-03255-x","url":null,"abstract":"<p><strong>Purpose: </strong>To identify factors associated with three decision outcomes along the planned oocyte cryopreservation (POC) pathway: fertility assessment completion, POC uptake, and multiple POC cycles uptake.</p><p><strong>Methods: </strong>A single-site retrospective cohort study of 425 patients who sought POC consultation from 2018-2022 before and during the COVID-19 pandemic.</p><p><strong>Results: </strong>The mean age of patients at consultation was 35.2 ± 4.0. 73% (n = 310) of the new consultations occurred since the COVID-19 pandemic. 335 patients completed fertility assessment following consultation. Of the 335 patients (78.8%) completing fertility assessment, 139 (32.7%) underwent at least one cycle. The odds of completing fertility assessment were 3.65 times greater for patients being seen pre-pandemic than for those being seen during the pandemic (p < 0.001). Not having a committed partner (OR 2.61, p < 0.001) and not having a prior pregnancy history (OR 1.99, p = 0.03) positively predicted POC uptake. Each additional number of cryopreserved MII oocytes in the first cycle reduced the odds of undergoing more cycles by 0.74 times (p < 0.001). Of the 196 patients with no POC uptake despite having a fertility consultation, 10 decided to do nothing, 16 decided to get pregnant with or without a partner, and the other 170 had not yet indicated their decision.</p><p><strong>Conclusion: </strong>Our centre experienced a surge of patients seeking POC consultation since the COVID-19 outbreak. Approximately one-third of these patients progressed to the POC stage. Our findings validate the complexity of POC decision-making and the value of providing ongoing decision support to patients along the POC pathway.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142288112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety and effectiveness of controlled ovarian stimulation and oocyte retrieval during prepubertal and peripubertal period","authors":"Sönmezer Meltem, Gemici Ali, Şükür Yavuz Emre, Turan Hande, Alimogulları Ebru, Avşar Betül, Atabekoğlu Cem Somer, Özmen Batuhan, Turan Volkan, Sönmezer Murat","doi":"10.1007/s10815-024-03262-y","DOIUrl":"https://doi.org/10.1007/s10815-024-03262-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Is it safe and effective to perform controlled ovarian stimulation (COS) and oocyte retrieval (OR) in prepubertal and peripubertal patients?</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>In this retrospective cohort study, data of 20 pre-/peripubertal patients who underwent COS and OR for the purpose of oocyte cryopreservation (OC) between 2008 and 2023 were reviewed. Following COS, all OR procedures were performed transabdominally using a vaginal ultrasound probe. Ovarian reserve was assessed by serum FSH, LH, estradiol, AMH, and antral follicle counts (AFC) in all subjects. All mature oocytes were vitrified.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Mean age of the patients was 15.05 ± 1.87, mean AMH was 0.84 ± 0.8 ng/ml, mean FSH was 6.39 ± 3.95 IU/L, mean estradiol was 61.6 ± 51.9 pg/ml, mean LH was 4.69 ± 3.46 IU/L, and mean AFC was 5.5 ± 5.82. Among the patients, 12 had regular menstrual cycle, 5 had irregular menstrual cycle, whereas 3 patients still did not have their menarche yet. The indications for OC were as follows: primary ovarian insufficiency (<i>n</i> = 7), ovarian surgery for ovarian tumors (<i>n</i> = 5) or ovarian torsion (<i>n</i> = 1), mosaic Turner syndrome (<i>n</i> = 2), acute lymphoblastic leukemia (<i>n</i> = 1) anaplastic B-cell lymphoma (<i>n</i> = 1), Ewing’s sarcoma (<i>n</i> = 1), Noonan syndrome (<i>n</i> = 1), and Thalassemia (<i>n</i> = 1). The mean number of oocytes retrieved, MII oocytes frozen, and maturation rate were 5.11 ± 5.0, 3.92 ± 4.48, and 75.1 ± 25.6%, respectively. Stepwise linear regression analysis demonstrated a positive correlation between AFC and number of total oocytes retrieved and number of MII oocytes. In the case diagnosed with Noonan syndrome, all 7 retrieved oocytes were MI and all frozen at MI phase. No patient had any complication related to COS or OR.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Even though number of the enrolled subjects is limited and mean AMH is lower in our cohort, we demonstrated that performing COS and OR is safe in pre-/peripubertal patients. If required, transabdominal route can be performed in this age group for OR. AFC appears as a prognostic factor for stimulation outcome in this age group. Pediatric patients or young adolescents at risk for primary ovarian insufficiency should not be discouraged from utilizing OC.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of a novel splicing variant of thyroid hormone receptor interaction protein 13 (TRIP13) in female infertility characterized by oocyte maturation arrest","authors":"Jia Chen, Yuxin Liu, Xingwu Wu, Yiwei Zhang, Wen Huang, Wenbo Han, Ge Chen, Qiang Xu, Houyang Chen, Qiongfang Wu, Jiawei Wang, Jialyu Huang","doi":"10.1007/s10815-024-03219-1","DOIUrl":"https://doi.org/10.1007/s10815-024-03219-1","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>As a cause of primary female infertility, oocyte maturation arrest (OMA) is characterized by failure to obtain mature oocytes due to abnormal meiosis. We aimed to identify pathogenic variants in two sisters with OMA phenotype from a non-consanguineous family.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Whole-exome sequencing and Sanger sequencing were conducted to identify and validate the disease-causing gene variant. Additionally, we performed a minigene assay, quantitative reverse transcription PCR, and Western blotting to assess the effects of the variant.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>We identified a novel homozygous splicing variant (c.1021-11T&gt;C) in <i>TRIP13</i>, which followed a recessive inheritance pattern. Minigene assay showed that the variant could disrupt the integrity of <i>TRIP13</i> mRNA, as evidenced by the production of an alternative transcript with intron10 intermediate retention of 79 bp. Compared to normal controls, the expression of <i>TRIP13</i> mRNA and abundance of TRIP13 protein were also significantly decreased in Epstein-Barr virus-immortalized lymphoblastoid cells derived from affected individuals.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Our findings confirm the contribution of genetic factors to OMA and expand the mutation spectrum of <i>TRIP13</i> in female infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}