Reproductive biology最新文献

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Expression of miRNA from spent pre-implantation embryos culture media 用过的植入前胚胎培养基中 miRNA 的表达
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-21 DOI: 10.1016/j.repbio.2023.100847
Claudia Omes , Alice Conti , Laura Benedetti , Veronica Tomasoni , Davide De Marchi , Rossella E. Nappi , M. Gabriella Cusella De Angelis , Gabriele Ceccarelli
{"title":"Expression of miRNA from spent pre-implantation embryos culture media","authors":"Claudia Omes ,&nbsp;Alice Conti ,&nbsp;Laura Benedetti ,&nbsp;Veronica Tomasoni ,&nbsp;Davide De Marchi ,&nbsp;Rossella E. Nappi ,&nbsp;M. Gabriella Cusella De Angelis ,&nbsp;Gabriele Ceccarelli","doi":"10.1016/j.repbio.2023.100847","DOIUrl":"https://doi.org/10.1016/j.repbio.2023.100847","url":null,"abstract":"<div><p>This study examines the expression of three microRNAs (hsa-miR-661, hsa-miR-21–5p, hsa-miR-372–5p) in spent pre-implantation embryos culture media to identify possible new non-invasive biomarkers of embryo competence, predictive of development to the blastocyst stage. A preliminary analysis on 16 patients undergoing IVF cycles was performed by collecting and stored spent culture media on the fifth/sixth day of embryo culture. Expression of miRNAs was evaluated according to the embryos’ fate: 1) NE/DG: non-evolved or degenerate embryos; 2) BLOK: embryos developed to the blastocyst stage. Preliminary results revealed a higher miRNAs expression in NE/DG spent media. To elucidate the roles of these miRNAs, we employed a robust bioinformatics pipeline involving: 1) in-silico miRNA Target Prediction using RNAHybrid, which identified the most-likely gene targets; 2) Construction of a Protein-Protein Interaction network via GeneMania, linking genes with significant biological correlations; 3) application of modularity-based clustering with the gLay app in Cytoscape, resulting in three size-adapted subnets for focused analysis; 4) Enrichment Analysis to discern the biological pathways influenced by the miRNAs. Our bioinformatics analysis revealed that hsa-miR-661 was closely associated with pathways regulating cell shape and morphogenesis of the epithelial sheet. These data suggest the potential use of certain miRNAs to identify embryos with a higher likelihood of developing to the blastocyst stage. Further analysis will be necessary to explore the reproducibility of these findings and to understand if miRNAs here investigated can be used as biomarkers for embryo selection before implantation into the uterus or if they may be reliable predictors of IVF outcome.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100847"},"PeriodicalIF":2.1,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141078549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Research progress on the role of autophagy in the development of varicocele 关于自噬在精索静脉曲张发病过程中的作用的研究进展
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-21 DOI: 10.1016/j.repbio.2024.100894
Yunqing Li , Yulan Zhou , Tianzhong Ma , Jiaze Dai , Hongbo Li , Qingjun Pan , Wenying Luo
{"title":"Research progress on the role of autophagy in the development of varicocele","authors":"Yunqing Li ,&nbsp;Yulan Zhou ,&nbsp;Tianzhong Ma ,&nbsp;Jiaze Dai ,&nbsp;Hongbo Li ,&nbsp;Qingjun Pan ,&nbsp;Wenying Luo","doi":"10.1016/j.repbio.2024.100894","DOIUrl":"https://doi.org/10.1016/j.repbio.2024.100894","url":null,"abstract":"<div><p>Varicocele (VC) is a common cause of infertility in men. Pathophysiological changes caused by VC, such as testicular hypoxia, high temperatures, oxidative stress, abnormal reproductive hormones, and Cd accumulation, can induce autophagy, thus affecting the reproductive function in patients with this condition. Autophagy regulators can be classified as activators or inhibitors. Autophagy activators upregulate autophagy, reduce the damage to the testis and epididymis, inhibit spermatogenic cell apoptosis, and protect fertility. In contrast, autophagy inhibitors block autophagy and aggravate the damage to the reproductive functions. Therefore, elucidating the role of autophagy in the occurrence, development, and regulation of VC may provide additional therapeutic options for men with infertility and VC. In this review, we briefly describe the progress made in autophagy research in the context of VC.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100894"},"PeriodicalIF":2.1,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141078514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of low ethanol concentration in maturation medium on developmental ability, mitochondria, and gene expression profile in mouse oocytes 成熟培养基中低浓度乙醇对小鼠卵母细胞发育能力、线粒体和基因表达谱的影响
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-21 DOI: 10.1016/j.repbio.2023.100854
Susaki Kizasu , Takuya Sato , Yuki Inoue , Hidetaka Tasaki , Komei Shirasuna , Yuichi Okiishi , Hisataka Iwata
{"title":"Effect of low ethanol concentration in maturation medium on developmental ability, mitochondria, and gene expression profile in mouse oocytes","authors":"Susaki Kizasu ,&nbsp;Takuya Sato ,&nbsp;Yuki Inoue ,&nbsp;Hidetaka Tasaki ,&nbsp;Komei Shirasuna ,&nbsp;Yuichi Okiishi ,&nbsp;Hisataka Iwata","doi":"10.1016/j.repbio.2023.100854","DOIUrl":"https://doi.org/10.1016/j.repbio.2023.100854","url":null,"abstract":"<div><p>Ethanol affects pre-conceptional oocyte quality in women. In this study, we examined the effect of low ethanol concentrations on mouse oocytes. Oocytes were collected from the ovaries of 9–10 week old mice and allowed to mature in vitro in the presence of low concentrations of ethanol (0.1% and 0.2% v/v) for 24 h. Treatment of oocytes with ethanol (0.2%) during maturation decreased the mitochondrial DNA content and membrane potential compared to that in untreated ones, whereas the ATP content did not differ between the groups. Both 0.1% and 0.2% ethanol reduced the lipid content in the oocytes. In addition, immunostaining revealed that oocytes cultured in maturation medium containing ethanol (0.2%) had reduced levels of global DNA methylation and DNMT3A compared with untreated oocytes, and decreased rate of blastocyst development with low mitochondrial protein levels (TOMM40) in embryo. RNA-sequencing of the ethanol-treated (0.2%) and untreated oocytes revealed that mitochondria were a major target of ethanol. In conclusion, treatment of oocytes with low concentration of ethanol reduces the developmental rate to the blastocyst stage, with a lower total cell number and global DNA methylation. In addition, ethanol affected mitochondrial function and mitochondria-related gene expression.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100854"},"PeriodicalIF":2.1,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141073365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Key regulatory protein QRICH2 governing sperm function with profound antioxidant properties, enhancing sperm viability 管理精子功能的关键调控蛋白 QRICH2 具有深远的抗氧化特性,可提高精子活力
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-20 DOI: 10.1016/j.repbio.2024.100881
Guohui Zhang , Dongsheng Xiong , Fei Ye , Yuhong Zhao , Xinrong Du , Weiwei Zhi , Fulin Liu , Jiuzhi Zeng , Wenming Xu , Weixin Liu , Yi Shi
{"title":"A Key regulatory protein QRICH2 governing sperm function with profound antioxidant properties, enhancing sperm viability","authors":"Guohui Zhang ,&nbsp;Dongsheng Xiong ,&nbsp;Fei Ye ,&nbsp;Yuhong Zhao ,&nbsp;Xinrong Du ,&nbsp;Weiwei Zhi ,&nbsp;Fulin Liu ,&nbsp;Jiuzhi Zeng ,&nbsp;Wenming Xu ,&nbsp;Weixin Liu ,&nbsp;Yi Shi","doi":"10.1016/j.repbio.2024.100881","DOIUrl":"https://doi.org/10.1016/j.repbio.2024.100881","url":null,"abstract":"<div><p>Infertility poses a global health and social challenge, affecting approximately 15% of couples at childbearing age, with half of the cases attributed to male factors, wherein genetic factors exert a substantial role. In our prior investigation, we identified loss-of-function variants within the gene encoding glutamine-rich protein 2 (QRICH2) in two consanguineous families, leading to various morphological abnormalities in sperm flagella and male infertility. Moreover, our observations in <em>Qrich2</em> knockout mice revealed a pronounced reduction in spermatozoa count. However, the underlying mechanism remains elusive, prompting further investigation in the current study. By conducting experiments such as Hematoxylin-eosin (HE) staining, immunofluorescence staining, flow cytometry, and single sperm metabolism analysis on the testes and spermatozoa of <em>Qrich2</em> knockout mice, we found a strong antioxidant capacity mediated by QRICH2 both <em>in vivo</em> and <em>in vitro</em>. <em>Qrich2</em> knockout led to elevated levels of ROS, consequently inducing DNA damage in spermatids, which in turn triggered increased autophagy and apoptosis, ultimately causing a significant decrease in spermatozoa count. Incubation with the N-terminal purified protein of QRICH2 exhibited potent strong antioxidant activity at the cell and spermatozoa levels <em>in vitro</em>, thereby enhancing spermatozoa viability and motility. Therefore, QRICH2 plays a crucial role in safeguarding spermatids from excessive ROS-induced damage by augmenting antioxidant capacity, thereby promoting spermatozoa survival and improving motility. Furthermore, the N-terminal purified protein of QRICH2 shows promise as an additive for protecting spermatozoa during preservation and cryopreservation.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100881"},"PeriodicalIF":2.1,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Involvement of circular RNAs in the control of porcine ovarian cell functions: Upregulation by ciR-00596 and downregulation by ciR-00646 环状 RNA 参与控制猪卵巢细胞功能:ciR-00596的上调和ciR-00646的下调。
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-19 DOI: 10.1016/j.repbio.2024.100860
Zuzana Fabová , Barbora Loncová , Abdel Halim Harrath , Alexander V. Sirotkin
{"title":"Involvement of circular RNAs in the control of porcine ovarian cell functions: Upregulation by ciR-00596 and downregulation by ciR-00646","authors":"Zuzana Fabová ,&nbsp;Barbora Loncová ,&nbsp;Abdel Halim Harrath ,&nbsp;Alexander V. Sirotkin","doi":"10.1016/j.repbio.2024.100860","DOIUrl":"10.1016/j.repbio.2024.100860","url":null,"abstract":"<div><p>The current understanding of the role of circular RNAs (circRNAs) in regulating ovarian functions is inadequate. To assess the impact of ciR-00596 and ciR-00646 on the regulation of basic porcine ovarian granulosa cell functions, we conducted upregulation (utilizing overexpressing vectors) and downregulation (utilizing shRNA vectors) of these circRNAs. The relative expression of both circRNAs, cell viability and proliferation (accumulation of PCNA, cyclin B1, and XTT-positive cells), cytoplasmic (accumulation of bax and caspase-3) and nuclear (DNA fragmentation) apoptosis, and the release of progesterone, testosterone, estradiol, IGF-I, and oxytocin were evaluated. Transfection of cells with the ciR-00596 overexpression vector resulted in increases in cell viability and proliferation and the release of progesterone and IGF-I, while it decreased the cytoplasmic and nuclear apoptosis, testosterone, estradiol, and oxytocin output. CiR-00596 inhibition had the opposite effects. The overexpression of ciR-00646 decreased cell viability and proliferation, and the release of progesterone, IGF-I, and oxytocin, while increasing cytoplasmic and nuclear apoptosis and the output of testosterone and estradiol. Our findings are the first to show the stimulatory action of ciR-00596 and the inhibitory effect of ciR-00646 on ovarian cell functions, including the cell cycle, apoptosis, and secretory activity.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100860"},"PeriodicalIF":2.1,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
LncRNA HOTAIR promotes the migration and invasion of cervical cancer through DNMT3B/LATS1/ YAP1 pS127 axis LncRNA HOTAIR通过DNMT3B/LATS1/ YAP1 pS127轴促进宫颈癌的迁移和侵袭
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-15 DOI: 10.1016/j.repbio.2024.100893
Zhihao Zhang , Xianyi Zhou , Jiulin Li , Qinghui Meng , Peng Zheng
{"title":"LncRNA HOTAIR promotes the migration and invasion of cervical cancer through DNMT3B/LATS1/ YAP1 pS127 axis","authors":"Zhihao Zhang ,&nbsp;Xianyi Zhou ,&nbsp;Jiulin Li ,&nbsp;Qinghui Meng ,&nbsp;Peng Zheng","doi":"10.1016/j.repbio.2024.100893","DOIUrl":"https://doi.org/10.1016/j.repbio.2024.100893","url":null,"abstract":"<div><p>Metastasis is the hallmark of cancer that is responsible for the greatest number of cancer-related deaths. As a critical regulator of the Hippo pathway, the phosphorylation status of Yes-associated protein 1 (YAP1), mainly at S127, is critical for its oncogenic function. Herein, we aim to investigate the precise molecular mechanism between long noncoding RNA HOX transcript antisense RNA (HOTAIR) and YAP1 phosphorylation in regulating tumor migration and invasion. In this study, we showed that inhibition of HOTAIR significantly decreased the migration and invasion of cancer cells both in vitro and in vivo through elevating the phosphorylation level of YAP1 on serine 127, demonstrating a tumor suppressive role of YAP1 S127 phosphorylation. Through bisulfite sequencing PCR (BSP), we found that inhibition of HOTAIR dramatically increased Large Tumor Suppressor Kinase 1 (LATS1) expression by regulating LATS1 methylation via DNA methyltransferase 3β (DNMT3B). In accordance with this observation, DNMT3B just only altered the distribution of YAP1 in the cytoplasm and the nucleus by inhibiting its phosphorylation, but did not change its total expression. Mechanistically, we discovered that HOTAIR suppressed YAP1 S127 phosphorylation by regulating the methylation of LATS1 via DNMT3B, the consequence of which is the translocation of YAP1 into the nucleus, reinforcing its coactivating transcriptional function, which in turn promotes the migration and invasion of cancer cells. Collectively, our data reveal that the phosphorylation of YAP1 S127 plays a vital role in the function of HOTAIR in tumorigenicity, and should be taken into consideration in future therapeutic strategies for cervical cancer.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100893"},"PeriodicalIF":2.1,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140950433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
How to beat the bull: Lycopene as a tool to improve in vitro fertilization efficiency in bulls with high polyspermy 如何战胜公牛番茄红素是提高多精症公牛体外受精效率的工具。
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-14 DOI: 10.1016/j.repbio.2024.100888
Andrea Fernández-Montoro , Daniel Angel-Velez , Berta Cava-Cami , Osvaldo Bogado Pascottini , Krishna Chaitanya Pavani , Katrien Smits , Ann Van Soom
{"title":"How to beat the bull: Lycopene as a tool to improve in vitro fertilization efficiency in bulls with high polyspermy","authors":"Andrea Fernández-Montoro ,&nbsp;Daniel Angel-Velez ,&nbsp;Berta Cava-Cami ,&nbsp;Osvaldo Bogado Pascottini ,&nbsp;Krishna Chaitanya Pavani ,&nbsp;Katrien Smits ,&nbsp;Ann Van Soom","doi":"10.1016/j.repbio.2024.100888","DOIUrl":"10.1016/j.repbio.2024.100888","url":null,"abstract":"<div><p>High levels of reactive oxygen species (ROS) derived from in vitro conditions compromise oocyte quality and subsequent polyspermy prevention by the zona and membrane block. Antioxidant supplementation, like lycopene, during in vitro maturation (IVM) mitigates ROS effects, yet, its efficacy in blocking polyspermy remains uncertain. This study aims to evaluate the effect of lycopene supplementation during IVM on oocyte maturation, fertilization, and developmental parameters. To this end, bovine oocytes were supplemented with 0.2 µM lycopene and fertilized with semen from three bulls. The three bulls showed different fertilization potential in vitro, with bull 1 showing the highest penetration and polyspermy rates and the lowest in vitro fertilization (IVF) efficiency. Interestingly, in bull 1, the treatment with lycopene improved IVF efficiency (p = 0.043) and reduced the polyspermy rate (p = 0.028). However, none of these effects were observed in bulls 2 and 3. Bulls with higher penetration rates exhibited better blastocyst rates although those rates did not seem to be associated with polyspermy or IVF efficiency. Oocyte mitochondrial distribution and activity and cortical granule migration and distribution were not influenced by lycopene. In conclusion, we demonstrated that lycopene addition during oocyte maturation had a positive impact on IVF efficiency by reducing polyspermy rates in a bull-dependent manner. The reduction in polyspermy rates was not caused by changes in cortical granule migration or oocyte mitochondrial distribution. Lycopene must therefore induce other changes in the oocyte that lower the in vitro penetration rates of specific bulls prone to polyspermy.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100888"},"PeriodicalIF":2.1,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140946747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitophagy in mammalian follicle development and health 哺乳动物卵泡发育和健康中的丝裂吞噬作用
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-10 DOI: 10.1016/j.repbio.2024.100889
Zhengrong Zhou, Zhipeng Wu, Liufang Zhang, Yue Dai, Genbao Shao, Caifang Ren, Pan Huang
{"title":"Mitophagy in mammalian follicle development and health","authors":"Zhengrong Zhou,&nbsp;Zhipeng Wu,&nbsp;Liufang Zhang,&nbsp;Yue Dai,&nbsp;Genbao Shao,&nbsp;Caifang Ren,&nbsp;Pan Huang","doi":"10.1016/j.repbio.2024.100889","DOIUrl":"https://doi.org/10.1016/j.repbio.2024.100889","url":null,"abstract":"<div><p>Mitophagy, the cellular process that removes damaged mitochondria, plays a crucial role in maintaining normal cell functions. It is deeply involved in the entire process of follicle development and is associated with various ovarian diseases. This review aims to provide a comprehensive overview of mitophagy regulation, emphasizing its role at different stages of follicular development. Additionally, the study illuminates the relationship between mitophagy and ovarian diseases, including ovary aging (OA), primary ovarian insufficiency (POI), and polycystic ovary syndrome (PCOS). A detailed understanding of mitophagy could reveal valuable insights and novel strategies for managing female ovarian reproductive health.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100889"},"PeriodicalIF":2.1,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1642431X24000354/pdfft?md5=4302135ed20d93df62b76167a3d7a11c&pid=1-s2.0-S1642431X24000354-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140905833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of a novel mutation in chibby family member 2 in a non-obstructive azoospermic patient 在一名非梗阻性无精子症患者体内发现奇比家族成员 2 的新型基因突变
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-10 DOI: 10.1016/j.repbio.2024.100891
Guohui Zhang , Fei ye , Yihong Yang , Dongsheng xiong , Weiwei Zhi , Yang Wu , Yongkang Sun , Jiuzhi Zeng , Weixin Liu
{"title":"Identification of a novel mutation in chibby family member 2 in a non-obstructive azoospermic patient","authors":"Guohui Zhang ,&nbsp;Fei ye ,&nbsp;Yihong Yang ,&nbsp;Dongsheng xiong ,&nbsp;Weiwei Zhi ,&nbsp;Yang Wu ,&nbsp;Yongkang Sun ,&nbsp;Jiuzhi Zeng ,&nbsp;Weixin Liu","doi":"10.1016/j.repbio.2024.100891","DOIUrl":"https://doi.org/10.1016/j.repbio.2024.100891","url":null,"abstract":"<div><p>Azoospermia constitutes a significant factor in male infertility, defined by the absence of spermatozoa in the ejaculate, afflicting 15% of infertile men. However, a subset of azoospermic cases remains unattributed to known genetic variants. Prior investigations have identified the chibby family member 2 (<em>CBY2</em>) as prominently and specifically expressed in the testes of both humans and mice, implicating its potential involvement in spermatogenesis. In this study, we conducted whole exome sequencing (WES) on an infertile family to uncover novel genetic factors contributing to azoospermia. Our analysis revealed a homozygous c .355 C&gt;A variant of <em>CBY2</em> in a non-obstructive azoospermic patient. This deleterious variant significantly diminished the protein expression of CBY2 both <em>in vivo and in vitro</em>, leading to a pronounced disruption of spermatogenesis at the early round spermatid stage post-meiosis. This disruption was characterized by a nearly complete loss of elongating and elongated spermatids. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) and co-immunoprecipitation assays demonstrated the interaction between CBY2 and Piwi-like protein 1 (PIWIL1). Immunofluorescence staining further confirmed the co-localization of CBY2 and PIWIL1 in the testes during the spermatogenic process in both humans and mice. Additionally, diminished PIWIL1 expression was observed in the testicular tissue from the affected patient. Our findings suggest that the homozygous c .355 C&gt;A variant of <em>CBY2</em> compromises CBY2 function, contributing to defective spermatogenesis at the round spermiogenic stage and implicating its role in the pathogenesis of azoospermia.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100891"},"PeriodicalIF":2.1,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140905834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Human benign Leydig cell tumor − Biochemical evaluation 人类良性雷迪格细胞瘤 - 生化评估
IF 2.1 3区 生物学
Reproductive biology Pub Date : 2024-05-08 DOI: 10.1016/j.repbio.2024.100890
Jan K. Wolski , Krzysztof Lustofin , Bartosz J. Płachno , Marta Zarzycka , Izabela Krakowska , Anna J. Korzekwa , Sylwia Zielinska , Beata Kusnierz-Cabala , Malgorzata Kotula-Balak
{"title":"Human benign Leydig cell tumor − Biochemical evaluation","authors":"Jan K. Wolski ,&nbsp;Krzysztof Lustofin ,&nbsp;Bartosz J. Płachno ,&nbsp;Marta Zarzycka ,&nbsp;Izabela Krakowska ,&nbsp;Anna J. Korzekwa ,&nbsp;Sylwia Zielinska ,&nbsp;Beata Kusnierz-Cabala ,&nbsp;Malgorzata Kotula-Balak","doi":"10.1016/j.repbio.2024.100890","DOIUrl":"https://doi.org/10.1016/j.repbio.2024.100890","url":null,"abstract":"<div><p>Recently we reported expressional alterations in 219 genes and their transcripts in Leydig cell tumors but nowadays there is still a lack of full basic biochemical characteristics of these tumors. The discovery of potential biochemical markers for tumor management from early detection, treatments, and control of therapy results may markedly supplement genetic data. Leydig cell micronodules were obtained from patients with azoospermia who were qualified for testicular biopsy. The biochemistry of Leydig cell tumors was analyzed using histological staining and spectrophotometric measurements of total proteins, carbohydrates, lipids, and nucleic acids. In addition, the levels of calcium (Ca2 +), copper (Cu2 +), zinc (Zn2 +), and selenium (Se2 +) ions were measured. When compared to healthy testis we revealed, for the first time, that in the interstitial tissue with Leydig cell tumors, great amounts of proteins, carbohydrates, lipids, and acids were dislocated from the seminiferous tubules. Measurements of organic compounds showed a decrease (<em>P</em> &lt; 0.05) only in the Cu2 + content in Leydig cell tumors which may be related to their altered biochemical structure. This specific result may be promising for designing further approaches to manage this tumor based on combining morphological and molecular data.</p></div>","PeriodicalId":21018,"journal":{"name":"Reproductive biology","volume":"24 2","pages":"Article 100890"},"PeriodicalIF":2.1,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140880438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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