Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

Ferré, Marc; Amati‐Bonneau, Patrizia; Morinière, Catherine; Lemerle, S.; Przyrowski, Daniel; Procaccio, Vincent; Descamps, Philippe; Reynier, Pascal; May‐Panloup, Pascale

doi:10.1007/s10815-013-0141-8

Cited by 9 publications

(11 citation statements)

References 42 publications

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“…The mutation was named according to the Human Genome Variation Society (HGVS) standards (http://www.hgvs.org/ mutnomen/) with + 1 corresponding to the A of the ATG translation initiation codon in the GenBank cDNA sequence (LHCGR for NM_000233, ZP1 for NM_ 207341, ZP2 for NM_003460, ZP3 for NM_001110354, and ZP4 for NM_021186). Similar to other studies [9][10][11][12], we analyzed the first five exons of ZP3 to avoid false interpretation of the sequencing results due to a polymorphic locus, POM-ZP3 [13]. We also sequenced DNA from 200 control subjects.…”

Section: Mutation Detection and Bioinformatics Analysismentioning

confidence: 99%

Novel mutation in the ZP1 gene and clinical implications

Yuan

et al. 2019

J Assist Reprod Genet

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Purpose Empty follicle syndrome (EFS) is a complex reproductive disorder characterized by the repeated failure to aspirate oocytes from mature ovarian follicles during in vitro fertilization (IVF). In addition to some cases caused by iatrogenic problems and known genetic factors, there are still many unexplained aspects of EFS. Here, we aimed to assess the clinical and genetic characteristics of two EFS patients. Methods We have characterized two primary infertility patients with EFS in a nonconsanguineous family from China. Both the patients presented similar clinical phenotypes, that is a few granulosa cells but no oocytes could be retrieved during repeated cycles with normal follicular development, E2 levels, and bioavailable hCG plasma levels. Abnormal oocytes were obtained once or twice between multiple IVF cycles. We performed Sanger sequencing of the LHCGR and ZP1~ZP4 genes in the patients, and further bioinformatics analysis was performed to identify pathogenic elements in the genes. Results A novel mutation, c.181C>T (p.Arg61Cys), and a known mutation, c.1169_1176delTTTTCCCA (p.Ile390Thrfs*16), in the ZP1 gene were both identified in patient 2, but no mutations were identified in patient 1. The novel mutation inherited from her mother was absent in the control cohort and the ExAc database. The arginine residue is conserved at this position, and its replacement by cysteine was predicted to be deleterious. In another allele, a paternal frameshift mutation was predicted to introduce premature stop codons, resulting in the deletion of 234 amino acids from the C-terminus of the ZP1 protein. Conclusions Our findings presented compound heterozygous mutations in ZP1 associated with EFS and abnormal oocytes and provided further new evidence for the genetic basis of EFS and support for the genetic diagnosis of infertile individuals.

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Section: Mutation Detection and Bioinformatics Analysismentioning

confidence: 99%

Novel mutation in the ZP1 gene and clinical implications

Yuan

et al. 2019

J Assist Reprod Genet

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“…The ZP is a glycoprotein matrix structure that encloses the oocytes and embryos until the blastocyst stage leading to the process of hatching, which is a prerequisite for the embryo's implantation [8]. The ZP genes encoding these glycoproteins are both paralogs, possibly entailing the different function of the respective protein, and orthologs, maintaining the same function [17]. ZP is formed during the follicle development and it is vital for oocyte growth [18] as well as for the overall production of oocytes [19].…”

Section: Effects Of Zp Mutations and Polymorphismsmentioning

confidence: 99%

“…Undoubtedly, the ZP plays a pivotal role in the sperm-oocyte binding process and respective interactions prior to and following the fertilization process in order to prevent polyspermy and enable the acrosome reaction [8,25]. Finally, the ZP protects the subsequent preimplantation embryo [3] and enhances the contact of embryonic cells to enable the compaction process [17].…”

Section: Effects Of Zp Mutations and Polymorphismsmentioning

confidence: 99%

“…In this context, potential alterations on genes encoding the proteins of the ZP family may exert a negative impact on the formation of the ZP, leading to either an abnormal ZP or even to its total absence [17]. Interestingly, studies demonstrated that a homozygous mutation in ZP1 may result in EZP oocytes or even the ultimate lack of retrieved oocytes during an IVF cycle [3,19], while the homozygous variants of ZP2 may lead to a thin ZP and hinder the fertilization procedure [3].…”

Section: Effects Of Zp Mutations and Polymorphismsmentioning

confidence: 99%

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Empty Zona Pellucida Only Case: A Critical Review of the Literature

Siristatidis

Tzanakaki

Simopoulou

et al. 2021

IJERPH

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The presence of empty zona pellucida (EZP) in oocytes following oocyte retrieval (OR) during an in vitro fertilization (IVF) cycle presents a major clinical and laboratory challenge in assisted reproduction. It has been attributed to several factors such as the ovarian stimulation protocol employed, the damaging of the follicles during oocyte retrieval (OR) mainly through the high aspiration pressure, during the denudation technique, and the degeneration of oolemma within the zona pellucida (ZP) through apoptosis. The role of ZP is pivotal from the early stages of follicular development up to the preimplantation embryo development and embryo hatching. Polymorphisms or alterations on the genes that encode ZP proteins may contribute to EZP. We present a critical review of the published literature hitherto on EZP and available options when encountered with the phenomenon of EZP. Concerning the former, we found that there is rare data on this phenomenon that merits documentation. The latter includes technical, genetic, and pathophysiological perspectives, along with specific treatment options. In conclusion, we identify the lack of a definitive management proposal for couples presenting with this phenomenon, we underline the need for an algorithm, and indicate the questions raised that point towards our goal for a strategy when addressing a previous finding of EZP.

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“…Superior porcentagem de ovócitos com lesão na zona pelúcida foi observado após a maturação in vitro no sistema 3D. A zona pelúcida é uma matriz glicoproteica que desempenha papel importante durante a ovogênese, interação entre os gametas e pósfertilização impedindo a polispermia (Ferré et al, 2014). Zigotos viáveis e não viáveis apresentaram diferentes padrões de expressão gênica relacionados à fertilização, entre eles os genes ZP3 e ZP4, que podem comprometer a interação óvulo-espermatozoide e consequente fertilização (Yanez et al, 2016).…”

Section: Maturação In Vitro (Miv)unclassified

Maturação ovocitária in vitro avaliada conforme sistemas de cultivo bidimensional e tridimensional

Júnior¹,

Pires²

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The success of in vitro embryo production is directly linked to the quality of the oocytes and the conditions of in vitro culture. In the first stage of production called maturation, which refers to the in vitro culture of immature oocytes, the oocytes are selected and receive stimuli, follicular growth and composition from the medium in which they are inserted for the evolution of meiosis, involving nuclear and cytoplasmic changes essential for fertilization and subsequent embryonic development. However, productivity rates remain unchanged and further studies should be conducted in order to improve the quality of oocytes after the in vitro maturation phase. Thus, this study was conducted with two different experiments with the objective of: 1-Assessing the maturation of bovine oocytes with or without cumulus cells in three-dimensional in vitro culture systems using collagen matrix and comparing the traditional two-dimensional system; 2-Compare the methods of visual evaluation using an inverted microscope and fluorescence microscopy after the oocyte maturation process. The percentage of oocytes in the germinal vesicle was higher in those without cumulus cells. The oocytes with cumulus cells in a three-dimensional culture system showed a lower percentage of oocytes in metaphase I. Additionally, metaphase II rates were higher in those with cumulus cells regardless of the culture system. In addition, the percentage of ruptured oocytes was higher in the cumulus cells in 3D culture compared to the others. Different approaches were used to evaluate the oocyte chromatin post-maturation. In the evaluation by an inverted microscope, the parameters presence of the polar corpuscle and extrusion were evaluated. In general, the cumulus cells in 3D system showed a higher percentage of oocytes with polar body extrusion. The parameters analyzed germinal vesicle (fluorescence microscopy) versus absence of polar corpuscle (inverted microscope) and metaphase II (fluorescence microscopy) versus presence of polar corpuscle (inverted microscope) were compared between the approaches used: fluorescence microscopy versus inverted microscope. In general, the percentage of oocytes in the germinal vesicle (fluorescence microscopy) was lower compared to the proportion of oocytes observed with the absence of a polar corpuscle (inverted microscope). On the other hand, the percentage of oocytes in metaphase II (fluorescence microscopy) was higher than those identified with the presence of a polar corpuscle (inverted microscope). In summary, considering the results obtained through the analysis of fluorescence microscopy (elective as gold standard), the resumption of meiosis after the in vitro cultivation of oocytes with cumulus cells was similar between the 2D and 3D systems. Within the same evaluated system (2D or 3D), the absence of cumulus cells compromised the resumption of meiosis. In addition, oocytes matured in the 3D system showed a higher occurrence of damage in the pellucid zone.

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Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

Cited by 9 publications

References 42 publications

Novel mutation in the ZP1 gene and clinical implications

Novel mutation in the ZP1 gene and clinical implications

Empty Zona Pellucida Only Case: A Critical Review of the Literature

Maturação ovocitária in vitro avaliada conforme sistemas de cultivo bidimensional e tridimensional

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