Article
Genetics & Heredity
Jing Dai, Tianlei Zhang, Jing Guo, Qinwei Zhou, Yifan Gu, Jue Zhang, Liang Hu, Yurong Zong, Juan Song, Shuoping Zhang, Can Dai, Fei Gong, Guangxiu Lu, Wei Zheng, Ge Lin
Summary: Genetic variations in the ACTL9 gene in male individuals have been found to cause total fertilization failure (TFF). These variations disrupt the perinuclear theca structure and affect the localization of PLCz in sperm, leading to abnormal calcium oscillations in oocytes and subsequent TFF. Overcoming TFF can be achieved through assisted oocyte activation with calcium ionophore exposure.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Obstetrics & Gynecology
Junaid Kashir, Durga Ganesh, Celine Jones, Kevin Coward
Summary: Oocyte activation deficiency (OAD) is a major cause of ICSI cycle failure. Assisted oocyte activation (AOA) is a method that artificially increases the levels of intracytoplasmic calcium ions (Ca2+) through mechanical, electrical, and/or chemical stimuli. However, the safety and efficacy of AOA are still controversial. More research is needed to determine the safety and efficacy of AOA techniques.
HUMAN REPRODUCTION OPEN
(2022)
Review
Genetics & Heredity
Veena Unnikrishnan, John Kastelic, Jacob Thundathil
Summary: In cattle, the efficiency of ICSI is hindered by failed oocyte activation post sperm injection. Research focusing on proteins like Na/K-ATPase and PLC zeta is key to improving the success rate. Enhancing the efficiency of bovine ICSI has significant implications for the cattle breeding industry.
Review
Developmental Biology
Neha Gupta, Hiroki Akizawa, Hoi Chang Lee, Rafael A. Fissore
Summary: The discovery of PLCZ1 as a key factor in mammalian fertilization marked a significant breakthrough in understanding egg activation. The use of ICSI in humans confirmed the essential role of PLCZ1 in fertility, while also revealing potential novel components at the site of PLCZ1 residence in sperm. Further research in other species using ICSI highlighted gaps in our understanding of PLCZ1 release and activation, emphasizing the need for continued study in this area.
Review
Developmental Biology
A. Cardona Barberan, A. Boel, F. Vanden Meerschaut, D. Stoop, B. Heindryckx
Summary: It has been twenty years since the discovery of PLCZ1 as the sperm oocyte-activating factor, which is responsible for triggering calcium oscillations necessary for oocyte activation. Abnormal PLCZ1 can lead to fertilization failure in human spermatozoa. Assisted oocyte activation using Ca+2 ionophores has proven to be effective for sperm-related fertilization failure but not for female-related failure. Therefore, the development of diagnostic tests is crucial for improving clinical management in these cases.
Review
Chemistry, Medicinal
Haia M. R. Abdulsamad, Zoha F. F. Murtaza, Hessa M. M. AlMuhairi, Wjdan S. S. Bafleh, Salma A. A. AlMansoori, Shaikha A. A. AlQubaisi, Hamdan Hamdan, Junaid Kashir
Summary: Oocyte activation, driven by calcium oscillations mainly regulated by PLC zeta, is crucial for mammalian fertilization and embryogenesis. Failure of calcium release or defects in related mechanisms can lead to infertility in humans. Exploration of PLC zeta and its patterns in human sperm may offer potential for diagnosing and treating human fertility issues. This review provides a comprehensive update on the clinical associations between calcium release, PLC zeta, oocyte activation, and human fertility, discussing their implications in defective embryogenesis and infertility treatments.
Article
Obstetrics & Gynecology
Gerard Campos, Romualdo Sciorio, Sandro C. Esteves
Summary: Total fertilization failure is the failure of all metaphase II oocytes to fertilize in assisted reproduction cycles. Oocyte activation deficiency is the main cause of fertilization failure, attributed to sperm or oocyte issues. Diagnostic testing and artificial oocyte activation treatments are crucial for overcoming fertilization failure.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Andrology
Junaid Kashir, Bhavesh Mistry, Maha Adel Gumssani, Muhammad Rajab, Reema Abu-Dawas, Falah AlMohanna, Michail Nomikos, Celine Jones, Raed Abu-Dawud, Nadya Al-Yacoub, Kevin Coward, F. Anthony Lai, Abdullah M. Assiri
Summary: The study shows that with advancing male age, levels and variability of PLC zeta protein and mRNA in sperm decrease. There are also changes in the localization patterns of PLC zeta in sperm from older male mice.
ASIAN JOURNAL OF ANDROLOGY
(2021)
Article
Endocrinology & Metabolism
Gelin Huang, Xueguang Zhang, Guanping Yao, Lin Huang, Sixian Wu, Xiaoliang Li, Juncen Guo, Yuting Wen, Yan Wang, Lijun Shang, Na Li, Wenming Xu
Summary: This study reports a case of an infertile patient with globozoospermia caused by a homozygous missense variant in the SSFA2 gene. The study reveals that SSFA2 plays an important role in acrosome formation and the homozygous variant leads to decreased protein expression. The study also shows that Artificial Oocyte Activation (AOA) after Intracytoplasmic Sperm Injection (ICSI) successfully rescued oocyte activation failure and resulted in a live birth.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Chemistry, Medicinal
Junaid Kashir, Bhavesh V. V. Mistry, Lujain BuSaleh, Michail Nomikos, Sarah Almuqayyil, Raed Abu-Dawud, Nadya AlYacoub, Hamdan Hamdan, Saad AlHassan, F. Anthony Lai, Abdullah M. M. Assiri, Serdar Coskun
Summary: The application of antigen unmasking/retrieval (AUM) enhances the visualization of PLC zeta in human sperm, allowing for accurate assessment of sperm fertilization capacity.
Review
Cell Biology
Wjdan S. Bafleh, Haia M. R. Abdulsamad, Sally M. Al-Qaraghuli, Riwa Y. El Khatib, Rawdah Taha Elbahrawi, Azhar Mohamud Abdukadir, Shaima M. Alsawae, Zakia Dimassi, Hamdan Hamdan, Junaid Kashir
Summary: The recent COVID-19 pandemic has brought about significant changes in various fields, including society, law, economics, science, and medicine. The use of mRNA-based vaccines has been approved for the first time by drug regulatory authorities to combat the outbreak. While this represents a novel application of mRNA technology in vaccination medicine, the introduction of RNA into cells to produce molecules is not a new concept. It has been commonly practiced in research to manipulate oocytes and embryos and has potential therapeutic and diagnostic applications in combating infertility. This article describes the potential clinical applications, advantages, and limitations of mRNA-based platforms, and discusses how recent advances driven by the pandemic can benefit infertility treatment. Future directions for enhancing RNA therapeutics in reproductive biology, specifically in oocyte and embryo delivery, are also presented.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Bieke Bekaert, Annekatrien Boel, Lisa De Witte, Winter Vandenberghe, Mina Popovic, Panagiotis Stamatiadis, Gwenny Cosemans, Lise Tordeurs, Athina-Maria De Loore, Susana Marina Chuva de Sousa Lopes, Petra De Sutter, Dominic Stoop, Paul Coucke, Bjoern Menten, Bjoern Heindryckx
Summary: Gene correction using targeted nucleases in human embryos shows potential to reduce mutation transmission, but concerns have been raised about mosaicism and loss of heterozygosity observed in CRISPR-Cas9-targeted embryos. In this study, researchers successfully corrected a basepair substitution in PLCZ1 gene related to infertility in some embryos, but also observed short-range loss of heterozygosity. These findings contribute to the ongoing discussion about double-strand break repair mechanisms in early human embryos.
Article
Developmental Biology
Ionu George Porumb, Anca Magdalena Coricovac, Ioana Iulia Raica, Otilia Zarnescu, Andreea Cristiana Didilescu
Summary: Globozoospermia is a rare and severe disorder that affects male fertility. This article presents a case of successful treatment for primary male infertility through assisted reproductive techniques.
ROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY
(2022)
Review
Developmental Biology
Yuhkoh Satouh
Summary: This article reports on the study of oocyte activation induced by PLCZ1 in mice, as well as the generation of PLCZ1-deficient mouse models using genome-editing techniques. The findings show that PLCZ1 deficiency in mice leads to subfertility but can be fully restored by intracytoplasmic sperm injection, indicating a PLCZ1-independent oocyte activation mechanism. These findings raise new questions in the field of sperm biology and have implications for the treatment and phenotypic interpretation of oocyte activation failure in patients.
Article
Biology
Naoki Hirose, Yasuyuki Kikuchi, Atsuko Kageyama, Hibiki Sugita, Miu Sakurai, Yui Kawata, Jumpei Terakawa, Teruhiko Wakayama, Junya Ito, Naomi Kashiwazaki
Summary: During mammalian fertilization, intracellular calcium oscillations are needed for oocyte activation. Sperm lacking PLC zeta can still induce calcium rises in oocytes after IVF but not ICSI. Additional activation treatments such as SrCl2 and PLC zeta mRNA can rescue the developmental ability of Plcz1(-/-) sperm-derived oocytes after ICSI, leading to successful term development and healthy offspring.
Article
Obstetrics & Gynecology
Mary McKnight, Sherina Lawrence, Philip Xie, Zev Rosenwaks, Gianpiero Palermo
Summary: De novo male gametes capable of inducing full preimplantation blastocyst development can be obtained using a novel three-dimensional (3D) culture system. Mouse embryonic stem cells (mESCs) were differentiated into male germ-like cells in a 3D environment that simulates the seminiferous tubule. However, the functional gametes generated still had some differences compared to mature spermatozoa.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Stephanie Cheung, Philip Xie, Zev Rosenwaks, Gianpiero D. Palermo
Summary: The study aimed to identify specific germline mutations related to sperm reproductive competence in couples with unexplained infertility. The study found differences in sperm aneuploidy and gene mutation profiles between couples with successful and unsuccessful intracytoplasmic sperm injection outcomes. Rating: 9/10
FERTILITY AND STERILITY
(2023)
Article
Genetics & Heredity
Farnaz Shapouri, Tara Mahendran, Mirudhubashini Govindarajan, Philip Xie, Olena Kocur, Gianpiero D. Palermo, Hassan W. Bakos, Aisling Ahlstroem, Gunilla Caisander, Bo Xu, Shun Bai, Sarah Lambourne, R. John Aitken
Summary: This study compared the efficacy of a novel electrophoretic system (Felix(TM)) with a conventional method (DGC) for isolating human spermatozoa. The results showed that Felix(TM) achieved better sperm quality and reduced DNA damage in a shorter time compared to DGC.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Andrology
Olena M. M. Kocur, Philip Xie, Stephanie Cheung, Sydney Souness, Mary McKnight, Zev Rosenwaks, Gianpiero D. D. Palermo
Summary: This study aimed to investigate the relationship between sperm chromatin fragmentation (SCF) and embryo aneuploidy, and to explore treatment options. The results showed that microfluidic sperm selection (MFSS) can reduce SCF and improve embryo development, resulting in increased rates of embryo euploidy and implantation.
Article
Multidisciplinary Sciences
Stephanie Cheung, Rony Elias, Philip Xie, Zev Rosenwaks, Gianpiero D. D. Palermo
Summary: The desire for specific sex of offspring has been a long-standing issue, especially with the development of assisted reproduction. This study proposed a novel technique for sperm sex selection that appears to be consistently safe and effective, with positive clinical outcomes.
Article
Cell Biology
Robert Setton, Philip Xie, Zev Rosenwaks, Gianpiero D. Palermo
Summary: Oocyte-mediated somatic cell haploidization is a feasible technique for creating functional gametes in mammals. Experimental data have shown successful reconstruction of murine oocytes, resulting in a blastocyst formation rate of 12.7% and a diploid embryo rate of 27.3%. This method has the potential to generate patient-genotyped oocytes, but further research is needed to improve the generation of chromosomally normal embryos.
Article
Obstetrics & Gynecology
Jessica A. Marinaro, Aaron Brant, Caroline Kang, Nahid Punjani, Philip Xie, Nikica Zaninovic, Gianpiero D. Palermo, Zev Rosenwaks, Peter N. Schlegel
Summary: Providing fresh ejaculated semen samples allows approximately 10% of men with azoospermia to avoid surgery and achieve satisfactory intracytoplasmic sperm injection (ICSI) outcomes. Additionally, providing multiple ejaculated samples over a short period of time does not have a negative impact on sperm concentration and may enhance sperm motility in men with cryptozoospermia.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Philip Xie, Olena M. Kocur, Stephanie Cheung, Lily Ng, David F. Albertini, Zev Rosenwaks, Gianpiero D. Palermo
Summary: The sperm centrosome, an important organelle in fertilization and embryonic development, plays a crucial role in mitotic spindle formation, chromosome segregation, and syngamy. Abnormalities of the sperm centrosome can lead to abnormal embryonic development, pregnancy loss, and chromosomal instability. Understanding the molecular composition, regulation, and function of the sperm centrosome is vital for elucidating the mechanisms of successful fertilization and embryonic development, as well as addressing infertility and developmental disorders associated with centrosomal defects.
FERTILITY AND STERILITY
(2023)