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Life
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Identification of Genetic and Epigenetic Factors in Male Infertility
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Identification of Genetic and Epigenetic Factors in Male Infertility

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Reproductive and Developmental Biology".

Deadline for manuscript submissions: closed (22 December 2022) | Viewed by 7706

Special Issue Editor

Dr. Weiyu Li

E-Mail Website
Guest Editor
Department of Bioengineering and Therapeutic Sciences, Institute for Human Genetics University of California San Francisco, San Francisco, San Francisco, CA, USA
Interests: spermatogenesis; male infertility; next-generation sequencing; assisted reproductive technology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Male infertility affects approximately 7% men, as an economic, social and psychological burden for couples that seek biological parenthood all over the world. Despite the advances in technology and next-generation sequencing, which have contributed to the identification of novel genes underlying male infertility, its genetic causes are still often unknown. Spermatogenesis and fertilization involve complex processes with numerous pathways and interactions, for which the pathogenic mechanisms still need to be further investigated.

This Special Issue aims to present a comprehensive collection of articles on the latest findings in the identification of genetic and epigenetic factors in male infertility, including genetic and epigenetic factors participating in different processes of proliferation and differentiation of spermatogonia, meiosis, spermiogenesis and sperm activation. In addition, we aim to uncover the essential roles they play and their pathogenic mechanisms, which could be helpful for patient prognosis . This collection will cover molecular, clinical research and translational medicine related to causative gene identification, epigenetic function discovery, assisted reproductive technology improvement, signaling pathways and interactions in male infertility.

We welcome original Research articles and reviews, including, but not limited to, the following topics:

  • Identification of causative genetic and epigenetic factors involved in male infertility.
  • Translational medicine for male infertility through the application of identified associated factors.
  • Classification or subclassification of patients according to the relevant pathways with detailed and precise phenotypes.
  • Molecular function, crosstalk of signaling pathways, interaction with environments in processes of proliferation and differentiation of spermatogonia, meiosis, spermiogenesis and sperm activation.
  • Assisted reproductive technology application and outcome of male infertility.

Dr. Weiyu Li
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. Life 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

  • spermatogenesis
  • male infertility
  • next-generation sequencing
  • assisted reproductive technology

Published Papers (4 papers)

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Research

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14 pages, 923 KiB  
Article
Is There a Relationship between Sperm DNA Fragmentation and Intra-Uterine Insemination Outcome in Couples with Unexplained or Mild Male Infertility? Results from the ID-Trial
by Alessa Sugihara, Usha Punjabi, Ella Roelant and Diane De Neubourg
Life 2023, 13(1), 11; https://doi.org/10.3390/life13010011 - 20 Dec 2022
Cited by 1 | Viewed by 1372
Abstract
Background: Sperm DNA fragmentation has been proposed as a candidate test for the assessment of sperm function on the premise that damage to the sperm chromatin is associated with a detrimental reproductive outcome. The objective of our study was to investigate whether sperm [...] Read more.
Background: Sperm DNA fragmentation has been proposed as a candidate test for the assessment of sperm function on the premise that damage to the sperm chromatin is associated with a detrimental reproductive outcome. The objective of our study was to investigate whether sperm DNA fragmentation testing has a prognostic value, and thus can play a pivotal role in selecting future patients for intra-uterine insemination (IUI) therapy. Methods: This was a prospective cohort study conducted in a University Hospital setting. SDF was measured through TUNEL assay on the fresh semen sample presented at diagnosis and at insemination in couples with idiopathic/mild male infertility undergoing natural cycle IUI treatment. The generalized estimating equation (GEE)-model and multivariable model were used to analyze the probability of live birth and clinical pregnancy, respectively. ROC analysis was carried out to determine an SDF cut-off. Results: There was an inverse relationship between SDF in the ejaculate of the diagnostic semen sample and CP (p = 0.02; OR 0.94 95% CI (0.90, 0.989)) as well as LB (p = 0.04; OR 0.95 95% CI (0.90, 0.9985)). No significant association was found between SDF after gradient and IUI outcome in the diagnostic sample nor between SDF (ejaculate/after gradient) in the IUI samples. The ROC analysis proposed a cutoff of 17.5% as the best compromise between sensitivity and specificity in the diagnostic SDF for live birth; however, the test diagnostics are low, with an AUC of 0.576. Conclusions: Overall, this study strengthens the hypothesis of an inverse relationship between SDF and CP/LB. Furthermore, SDF taken together with other clinical characteristics might provide more insight into male reproductive potential and predicting IUI outcome. Couples with SDF ≥ 17.5% in the diagnostic semen sample did not reach live birth. Further research is necessary to establish the diagnostic and prognostic potential of SDF as an add-on test. Full article
(This article belongs to the Special Issue Identification of Genetic and Epigenetic Factors in Male Infertility)
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10 pages, 273 KiB  
Article
COVID-19 and Semen Fluid Parameters, a Retrospective Study from Infertility Clinics
by Zina M. Al-Alami, Soha Albeitawi, Maha S. ALNatsheh, Khaled Albakri, Hussein Qublan, Nadia Muhaidat, Mariam Ahmad Abuhalaweh, Maen Monketh AlRawashdeh and Hiba Alqam
Life 2022, 12(12), 2076; https://doi.org/10.3390/life12122076 - 10 Dec 2022
Cited by 3 | Viewed by 1720
Abstract
The study of the effects of SARS-CoV-2 infection and/or vaccination on semen fluid analysis (SFA) parameters is still incomplete. The aim of this study is to assess the effect of COVID-19 infection and vaccination on sperm parameters for a sample of individuals visiting [...] Read more.
The study of the effects of SARS-CoV-2 infection and/or vaccination on semen fluid analysis (SFA) parameters is still incomplete. The aim of this study is to assess the effect of COVID-19 infection and vaccination on sperm parameters for a sample of individuals visiting multi-infertility clinics in Jordan. SFA records were collected retrospectively between September and November 2021 and analyzed using Jamovi software (version 2.2.5 for Windows); p-values < 0.05 were considered statistically significant. Sperm concentration, progressive motility, normal morphology, and semen liquefaction time, volume, and viscosity were compared among two data categories. In the first category of data, SFA records from 354 participants were separated into four groups: only vaccinated, infected and vaccinated, neither infected nor vaccinated, and only infected. In the other category, SFA from 49 subjects before their infection and/or vaccination and after were classified into the same mentioned groups and analyzed. There were no statistically significant differences between the studied parameters in the SFA records in the first data category and the second. Nevertheless, the sperm concentration was higher among vaccinated subjects compared to unvaccinated ones (p = 0.04). It is concluded that SARS-CoV-2 infection and vaccines have no negative effects on SFA parameters. Full article
(This article belongs to the Special Issue Identification of Genetic and Epigenetic Factors in Male Infertility)
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13 pages, 919 KiB  
Article
Variability in Sperm DNA Fragmentation in Men with Mild/Unexplained Subfertility in a Prospective Longitudinal Intrauterine Insemination Trial
by Usha Punjabi, Ella Roelant, Kris Peeters, Ilse Goovaerts, Helga Van Mulders and Diane De Neubourg
Life 2022, 12(11), 1826; https://doi.org/10.3390/life12111826 - 9 Nov 2022
Cited by 4 | Viewed by 1518
Abstract
The biological variability of semen and sperm DNA fragmentation (SDF) parameters in a longitudinal intrauterine insemination (IUI) trial over multiple IUI cycles was investigated. A TUNEL assay was used for SDF testing, both before and after density gradient centrifugation. A significant age effect [...] Read more.
The biological variability of semen and sperm DNA fragmentation (SDF) parameters in a longitudinal intrauterine insemination (IUI) trial over multiple IUI cycles was investigated. A TUNEL assay was used for SDF testing, both before and after density gradient centrifugation. A significant age effect was observed: while semen parameters deteriorated with advancing age, on average, higher SDF values were observed for older males. There was quite some variability observed for both semen and SDF variables. Using fertile threshold values, three patient categories were distinguished: those with a high SDF in all samples, those with low SDF in all samples and those who fluctuated between high and low during the whole IUI trial. Density gradient centrifugation increases SDF. However, the three patient categories react differently after semen processing. A large percentage of those with high SDF retain their high SDF even after gradient centrifugation. The SDF fluctuaters react with a high SDF after gradient centrifugation. The low SDF category, on the contrary, distributes itself evenly between the three categories after gradient centrifugation. SDF testing after semen processing might be indispensable for therapeutic purposes, probably influencing medical decision-making. In order to isolate fluctuaters, a second SDF testing might be advocated in certain cases. SDF after semen processing is indispensable for therapeutic management. Full article
(This article belongs to the Special Issue Identification of Genetic and Epigenetic Factors in Male Infertility)
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Review

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19 pages, 4559 KiB  
Review
Epigenetics Role in Spermatozoa Function: Implications in Health and Evolution—An Overview
by Julia Andreu-Noguera, Andrea López-Botella, Paula Sáez-Espinosa and María José Gómez-Torres
Life 2023, 13(2), 364; https://doi.org/10.3390/life13020364 - 29 Jan 2023
Cited by 1 | Viewed by 2610
Abstract
The unique properties of spermatozoa are established through the spermatogenesis and maturation processes concurrently with its epigenome. It is known that damage to epigenetic mechanisms can lead to reproductive problems. However, scientific reviews addressing the role of the spermatozoa epigenome during the reproductive [...] Read more.
The unique properties of spermatozoa are established through the spermatogenesis and maturation processes concurrently with its epigenome. It is known that damage to epigenetic mechanisms can lead to reproductive problems. However, scientific reviews addressing the role of the spermatozoa epigenome during the reproductive process are scarce. Therefore, the aim of this review was to offer a detailed overview of current knowledge in the field of spermatozoa epigenetics and its consequent implications. A full search was performed through three databases by combining five keywords. Inclusion criteria were implemented to grant accessibility, relevance, and concretion. Besides, some articles were manually removed or added to obtain an adequate and complete collection of 485 scientific publications. This compilation was used to conduct the bibliometric analysis and the data review separately. Bibliometric results displayed that spermatozoa epigenetics is an active and growing research area. The bibliographic overview showed that sperm epigenome correlates with the development of its function, explaining the environmental influence on reproductive pathologies or abnormal inheritance. The main conclusions were that the normal performance of sperm is heavily reliant on its epigenetics and that this study area is burgeoning, with the potential ability to provide society with clinical innovations in a short-term period. Full article
(This article belongs to the Special Issue Identification of Genetic and Epigenetic Factors in Male Infertility)
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