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Novel PLCZ1 mutation caused polyspermy during in vitro fertilization

Asian Journal of Andrology 2024年第4期26卷 389-395页

作者： Ke-Ya Tong Wei-Wei Liu Li-Wei Sun Dong-Yun Liu Ye-Zhou Xiang Chong Li Lu-Wei Chai Ke Chen Guo-Ning Huang Jing-Yu Li chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineWomen and Children’s Hospital of Chongqing Medical UniversityChongqing 400012China chongqing Clinical Research center for Reproductive Medicine Center for Reproductive MedicineChongqing Health Center for Women and ChildrenChongqing 400012China.

Failure of oocyte activation,including polyspermy and defects in pronuclear(PN)formation,triggers early embryonic developmental *** studies have shown that phospholipase C zeta 1(PLCZ1)mutations cause failure of PN formation following intracytoplasmic sperm injection(ICSI);however,whether PLCZ1 mutation is associated with polyspermy during in vitro fertilization(IVF)remains ***-exome sequencing(WES)was performed to identify candidate mutations in couples with primary *** sequencing was used to validate the *** PLCZ1-mutated sperm were injected into human and mouse oocytes to explore whether PN formation was *** oocyte activation(AOA)after ICSI was performed to overcome the failure of oocyte *** identified three PLCZ1 mutations in three patients who experienced polyspermy during IVF cycles,including a novel missense mutation c.1154C>T,*** formation failure was observed during the ICSI ***,injection of multiple PLCZ1-mutated sperm induced PN formation,suggesting that the Ca2+oscillations induced by the sperm exceeded the necessary threshold for PN *** after ICSI enabled normal fertilization,and all patients achieved successful *** findings expand the mutational spectrum of PLCZ1 and suggest an important role for PLCZ1 in terms of blocking ***,this study may benefit genetic diagnoses in cases of abnormal fertilization and provide potential appropriate therapeutic measures for these patients with sperm-derived polyspermy.

关键词： AOA PLCZ1 polyspermy pronuclear formation

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SRSFs mediate the function of AR in the ovarian granulosa cells of patients with PCOS

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Genes & Diseases 2021年第1期8卷 94-109页

作者： Jing Luo Hong Ye Lijuan Hao Yixuan Sun Ruohan Li Yanxi Li Zhu Yang Gynecology and Obstetrics of the Second Affiliated Hospital of chongqing Medical University ChongqingPR China Gynecologic Endocrinology of chongqing health center for women and children ChongqingPR China

Ovarian hyperandrogenism is one of the characteristics of polycystic ovary syndrome(PCOS)and androgen receptor(AR)in ovarian granulosa cells(GCs)functions as an important element to the accumulation of *** study verified the existence of alternative splicing variant of AR(AR-SVs)in the GCs of PCOS patients and found that the function of AR decreased significantly in the presence of *** compared to the normal individuals,the expression of Serine/arginine-rich splicing factor 2(SRSF2)was higher and the expression of SRSF3 was lower in the GCs of patients with *** importantly,we found that the expression of SRSF2 was inhibited and that the expression of AR was decreased after the successful upregulation of miRNA-183,and testostrone(T)concentrations in the culture medium were *** results also showed that the expression of SRSF3 decreased when miRNA-124 was successfully upregulated,while the expression of AR significantly increased;however,the function of AR was also inhibited when T concentration in the culture medium was *** study has proved that SRSFs are regulated by corresponding miRNAs,and the altered expression of SRSFs interferenced the alternative splicing process of AR and ultimately decreased the function of AR,leading to the accumulation of androgens in the ovary.

关键词： Androgen receptor Granulosa cells Hyperandrogenism miRNAs PCOS SRSFs

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Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection

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Asian Journal of Andrology 2023年第5期25卷 564-571页

作者： Jing Ma Shun-Hua Long Hai-Bing Yu Ye-Zhou Xiang Xiang-Rong Tang Jia-Xun Li Wei-Wei Liu Wei Han Rong Jin Guo-Ning Huang Ting-Ting Lin center for Reproductive Medicine Women and Children's Hospital of Chongqing Medical UniversityChongqing 400010China chongqing health center for women and children Chongqing 400010China chongqing Key Laboratory of Human Embryo Engineering Chongqing 400010China

As a specific type of asthenoteratozoospermia,multiple morphological abnormalities of the sperm flagella(MMAF)is characterized by composite abnormalities,including absent,short,coiled,angulation,and irregular-caliber *** in cilia-and flagella-associated protein 43(CFAP43)are one of the main causative factors of MMAF established to *** identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations,we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing *** systematic analysis,seven mutations in CFAP43,including five novel mutations and two previously reported mutations,were identified from four families and related to MMAF in an autosomal recessive *** staining,immunofluorescence,and electronic microscopy further clarified the semen characteristics a nd abnormal sperm morphologies,including disorganized axonemal and peri-axonemal structures,of the CFAP43-deficient *** female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection,and one of them successfully gave birth to a healthy *** study significantly expands the mutant spectrum of CFAP43,and together with the available information regarding male infertility and MMAF,provides new information for the genetic diagnosis and counseling of MMAF in the future.

关键词： asthenoteratozoospermia CFAP43 intracytoplasmic sperm injection MMAF

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