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Molecular and Cellular Mechanisms of Infertility

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Endocrinology and Metabolism Research".

Deadline for manuscript submissions: closed (31 July 2022) | Viewed by 13843

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Special Issue Editor

Dr. Ying-Hung Lin

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Guest Editor

Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University, New Taipei City 242, Taiwan
Interests: infertility; spermatogenesis; genetic mutation; knockout mice model

Special Issue Information

Dear Colleagues,

We invite investigators to contribute original research and/or review articles that are involved in elucidating the possible molecular and cellular roles of genes, proteins, or signal pathways related to mammalian reproduction and/or infertility. The topics of interest include, but are not limited to, the listed topics below.

Clarifying the roles of genes, proteins, or signal pathways involved in reproduction;
Identifying or characterizing genetic mutations in infertility;
New technologies used for determining the pathological causes of infertility, e.g., next-generation sequencing, target sequencing, knockout mice models.

Dr. Ying-Hung Lin
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

infertility
spermatogenesis
oogenesis
molecular mechanisms
genetic mutation
spermatozoa
next-generation sequencing
knockout mice models

Published Papers (5 papers)

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Research

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17 pages, 6242 KiB

Open AccessArticle

Volatilomics as an Emerging Strategy to Determine Potential Biomarkers of Female Infertility: A Pilot Study

by Ana Teresa Brinca, Ofélia Anjos, Maria Manuel Casteleiro Alves, Ângela Sousa, António Hélio Oliani, Luiza Breitenfeld, Luís A. Passarinha, Ana Cristina Ramalhinho and Eugenia Gallardo

Biomedicines 2022, 10(11), 2852; https://doi.org/10.3390/biomedicines10112852 - 08 Nov 2022

Cited by 2 | Viewed by 2360

Abstract

Due to its high prevalence, infertility has become a prominent public health issue, posing a significant challenge to modern reproductive medicine. Some clinical conditions that lead to female infertility include polycystic ovary syndrome (PCOS), endometriosis, and premature ovarian failure (POF). Follicular fluid (FF) is the biological matrix that has the most contact with the oocyte and can, therefore, be used as a predictor of its quality. Volatilomics has emerged as a non-invasive, straightforward, affordable, and simple method for characterizing various diseases and determining the effectiveness of their current therapies. In order to find potential biomarkers of infertility, this study set out to determine the volatomic pattern of the follicular fluid from patients with PCOS, endometriosis, and POF. The chromatographic data integration was performed through solid-phase microextraction (SPME), followed by gas chromatography–mass spectrometry (GC-MS). The findings pointed to specific metabolite patterns as potential biomarkers for the studied diseases. These open the door for further research into the relevant metabolomic pathways to enhance infertility knowledge and diagnostic tools. An extended investigation may, however, produce a new mechanistic understanding of the pathophysiology of the diseases. Full article

(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Infertility)

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14 pages, 572 KiB

Open AccessArticle

Testosterone Serum Levels Are Related to Sperm DNA Fragmentation Index Reduction after FSH Administration in Males with Idiopathic Infertility

by Monica Lispi, Panagiotis Drakopoulos, Giorgia Spaggiari, Francesca Caprio, Nicola Colacurci, Manuela Simoni and Daniele Santi

Biomedicines 2022, 10(10), 2599; https://doi.org/10.3390/biomedicines10102599 - 17 Oct 2022

Cited by 7 | Viewed by 2169

Abstract

Purpose: Although a robust physiological rationale supports follicle stimulating hormone (FSH) use in male idiopathic infertility, useful biomarkers to evaluate its efficacy are not available. Thus, the primary aim of the study was to evaluate if testosterone serum levels are related to sperm DNA fragmentation (sDF) index change after FSH administration. The secondary aim was to confirm sDF index validity as a biomarker of FSH administration effectiveness in male idiopathic infertility. Methods: A retrospective, post-hoc re-analysis was performed on prospectively collected raw data of clinical trials in which idiopathic infertile men were treated with FSH and both testosterone serum levels and sDF were reported. Results: Three trials were included, accounting for 251 patients. The comprehensive analysis confirmed FSH’s beneficial effect on spermatogenesis detected in each trial. Indeed, an overall significant sDF decrease (p < 0.001) of 20.2% of baseline value was detected. Although sDF resulted to be unrelated to testosterone serum levels at baseline, a significant correlation was highlighted after three months of FSH treatment (p = 0.002). Moreover, testosterone serum levels and patients’ age significantly correlated with sDF (p = 0.006). Dividing the cohort into responders/not responders to FSH treatment according to sDF change, the FSH effectiveness in terms of sDF improvement was related to testosterone and male age (p = 0.003). Conclusion: Exogenous FSH administration in male idiopathic infertility is efficient in reducing sDF basal levels by about 20%. In terms of sDF reduction, 59.2% of the patients treated were FSH-responders. After three months of FSH administration, a significant inverse correlation between sDF and testosterone was detected, suggesting an association between the FSH-administration-related sDF improvement and testosterone serum levels increase. These observations lead to the hypothesis that FSH may promote communications or interactions between Sertoli cells and Leydig cells. Full article

(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Infertility)

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14 pages, 621 KiB

Open AccessArticle

Validation of Non-Invasive Preimplantation Genetic Screening Using a Routine IVF Laboratory Workflow

by Ni-Chin Tsai, Yun-Chiao Chang, Yi-Ru Su, Yi-Chi Lin, Pei-Ling Weng, Yin-Hua Cheng, Yi-Ling Li and Kuo-Chung Lan

Biomedicines 2022, 10(6), 1386; https://doi.org/10.3390/biomedicines10061386 - 11 Jun 2022

Cited by 3 | Viewed by 2671

Abstract

Embryo selection is needed to optimize the chances of pregnancy in assisted reproduction technology. This study aimed to validate non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using a routine IVF laboratory workflow. Can niPGT-A combined with time-lapse morphokinetics provide a better embryo-selection strategy? A total of 118 spent culture mediums (SCMs) from 32 couples were collected. A total of 40 SCMs and 40 corresponding trophectoderm (TE) biopsy samples (n = 29) or arrested embryos (n = 11) were assessed for concordance. All embryos were cultured to the blastocyst stage (day 5 or 6) in a single-embryo culture time-lapse incubator. The modified multiple annealing and looping-based amplification cycle (MALBAC) single-cell whole genome amplification method was used to amplify cell-free DNA (cfDNA) from the SCM, which was then sequenced on the Illumina MiSeq system. The majority of insemination methods were conventional IVF. Low cfDNA concentrations were noted in this study. The amplification niPGT-A and conventional PGT-A was 67.7%. Based on this study, performing niPGT-A without altering the daily laboratory procedures cannot provide a precise diagnosis. However, niPGT-A can be applied in clinical IVF, enabling the addition of blastocysts with a better prediction of euploidy for transfer. Full article

(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Infertility)

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12 pages, 3474 KiB

Open AccessArticle

Characterization of Epigenetic and Molecular Factors in Endometrium of Females with Infertility

by Giedrė Skliutė, Raminta Baušytė, Diana Ramašauskaitė and Rūta Navakauskienė

Biomedicines 2022, 10(6), 1324; https://doi.org/10.3390/biomedicines10061324 - 04 Jun 2022

Cited by 3 | Viewed by 1812

Abstract

Infertility is one of the most rapidly increasing global health concerns of the 21st century. Embryo quality and endometrial thickness and receptivity are the main factors for successful embryo implantation and pregnancy development. Nevertheless, until now, there has been a lack of understanding about the regulation of human endometrium function and its structure. This raises the demand for more research of the human endometrium in these fields. In our study, we analyzed the genetic and epigenetic changes of endometrial tissue’s samples isolated from females admitted for treatment due to male infertility and females diagnosed with reproductive pathologies, who are preparing for assisted reproductive technologies procedures. Using real-time polymerase chain reaction method, we demonstrated that endometrium of females with reproductive pathology has significantly upregulated decidualization related genes HAND2, MUC1, CSF2, increased expression of angiogenesis related gene PDGFA, and increases of overall immune response and inflammation-related genes expression with significant changes of RELA and CXCL10 genes expression. Females with reproductive pathology have altered endometrium epigenetic regulation since expression of miRNAs—specifically, miRNA-34a, miRNA-223, and miRNA-125b—is lower in endometrium of females with reproductive pathology. Our findings suggest that the potential changes in genetic and epigenetic profile of endometrium from females with reproductive pathology could enrich the knowledge in the field of core biological knowledge and treatment of reproductive impairments. Full article

(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Infertility)

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Review

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27 pages, 1223 KiB

Open AccessReview

Follicular Fluid: A Powerful Tool for the Understanding and Diagnosis of Polycystic Ovary Syndrome

by Ana Teresa Brinca, Ana Cristina Ramalhinho, Ângela Sousa, António Hélio Oliani, Luiza Breitenfeld, Luís A. Passarinha and Eugenia Gallardo

Biomedicines 2022, 10(6), 1254; https://doi.org/10.3390/biomedicines10061254 - 27 May 2022

Cited by 19 | Viewed by 3932

Abstract

Polycystic ovary syndrome (PCOS) represents one of the leading causes of anovulatory infertility and affects 5% to 20% of women worldwide. Until today, both the subsequent etiology and pathophysiology of PCOS remain unclear, and patients with PCOS that undergo assisted reproductive techniques (ART) might present a poor to exaggerated response, low oocyte quality, ovarian hyperstimulation syndrome, as well as changes in the follicular fluid metabolites pattern. These abnormalities originate a decrease of Metaphase II (MII) oocytes and decreased rates for fertilization, cleavage, implantation, blastocyst conversion, poor egg to follicle ratio, and increased miscarriages. Focus on obtaining high-quality embryos has been taken into more consideration over the years. Nowadays, the use of metabolomic analysis in the quantification of proteins and peptides in biological matrices might predict, with more accuracy, the success in assisted reproductive technology. In this article, we review the use of human follicular fluid as the matrix in metabolomic analysis for diagnostic and ART predictor of success for PCOS patients. Full article

(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Infertility)

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