Epigenetic Regulation and Its Impact for Medicine (2nd Edition)

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 3710

Special Issue Editor


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Guest Editor
Department of Medical Genetics, Third Faculty of Medicine, Charles University, Ruská 87, Vinohrady, 10000 Prague, Czech Republic
Interests: epigenetics: DNA methylation, RNA interference, gene expression; immunogenetics of autoimmune multifactorial diseases; multiple sclerosis; celiac diseases; type 1 diabetes mellitus; rheumatologic diseases; etiopatogenesis; multifactorial diseases associated with metabolic syndrome X; type 2 diabetes mellitus and its complications (diabetic nephropathy); neurosciences; spinal muscular atrophy (SMA); tumors of the brain (glioblastoma); stroke; variability of genes and genomes; pharmacogenetics and population genetics (Caucasians, American Indians, Gypsies)
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Special Issue Information

Dear Colleagues,

The term epigenetics was first introduced by Conrad Waddington in 1942. For half a century, its significance to gene expression, cell differentiation and heritability was unclear. However, modern technologies that emerged at the beginning of the 21st century have opened a new area of research. The epigenetic regulation of the genome allows cells to react to external signals caused by the alternation of gene activity by modifying gene expression. The epigenome controls the accessibility of DNA for transcription factors that regulate the level of gene expression. Therefore, epigenetic modifications are the collective heritable changes in phenotype caused by the processes that arise independent of primary DNA sequences.

A major driving force in epigenetics has been the development of new technology that has not only stimulated new discoveries, but also expanded this field by allowing for novel discoveries only possible through the use of these tools.

Plenty of studies have focused on the identification of possible biomarkers able to predict the onset of the disease, its activity degree, its progression phase and its response to disease-modifying drugs. Non-coding RNAs have the potential to serve as such biomarkers. These molecules can easily be detected in the peripheral blood or urine.

We encourage authors to submit articles and review papers about the role of epigenetic modulation in the etiopathology, prognosis and therapy of various diseases. We believe that this Special Issue will reflect the new era of epigenetics and show its important role in modern medicine.

Dr. Marie Černá
Guest Editor

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Keywords

  • gene expression
  • DNA methylation
  • histone modifications
  • non-coding RNAs
  • biomarkers

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Related Special Issue

Published Papers (3 papers)

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Research

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21 pages, 7735 KiB  
Article
MicroRNAs Associated with Parenchymal Hematoma After Endovascular Mechanical Reperfusion for Acute Ischemic Stroke in Rats
by Jin-Kun Zhuang, Zhong-Run Huang, Wang Qin, Chang-Luo Li, Qi Li, Chun Xiang, Yong-Hua Tuo, Zhong Liu, Qian-Yu Chen and Zhong-Song Shi
Biomedicines 2025, 13(2), 449; https://doi.org/10.3390/biomedicines13020449 - 12 Feb 2025
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Abstract
Background/Objectives: Hemorrhagic transformation after endovascular thrombectomy predicts poor outcomes in acute ischemic stroke with large-vessel occlusion. The roles of microRNAs (miRNAs) in the pathogenesis of parenchymal hematoma (PH) after endovascular thrombectomy still remain unclear. This study aimed to investigate the miRNA and mRNA [...] Read more.
Background/Objectives: Hemorrhagic transformation after endovascular thrombectomy predicts poor outcomes in acute ischemic stroke with large-vessel occlusion. The roles of microRNAs (miRNAs) in the pathogenesis of parenchymal hematoma (PH) after endovascular thrombectomy still remain unclear. This study aimed to investigate the miRNA and mRNA regulatory network associated with PH after mechanical reperfusion in an animal stroke model and an oxygen–glucose deprivation/reoxygenation (OGD/R) model. Methods: Twenty-five miRNAs were assessed in a mechanical reperfusion-induced hemorrhage transformation model in rats under hyperglycemic conditions receiving 5 h middle cerebral artery occlusion. The differentially expressed miRNAs associated with PH were assessed in a neuron, astrocyte, microglia, brain microvascular endothelial cell (BMEC), and pericyte model of OGD/R. The predicted target genes of the differentially expressed miRNAs were further assessed in the animal model. The miRNA-mRNA regulatory network of PH was established. Results: Thirteen down-regulated miRNAs (miRNA-29a-5p, miRNA-29c-3p, miRNA-126a-5p, miRNA-132-3p, miRNA-136-3p, miRNA-142-3p, miRNA-153-5p, miRNA-218a-5p, miRNA-219a-2-3p, miRNA-369-5p, miRNA-376a-5p, miRNA-376b-5p, and miRNA-383-5p) and one up-regulated miRNA (miRNA-195-3p) were found in the rat peri-infarct with PH after mechanical reperfusion. Of these 14 PH-related miRNAs, 10 were significantly differentially expressed in at least two of the five neuron, astrocyte, microglia, BMEC, and pericyte models after OGD/R, consistent with the animal stroke model results. Thirty-one predicted hub target genes were significantly differentially expressed in the rat peri-infarct with PH after mechanical reperfusion. Forty-nine miRNA-mRNA regulatory axes of PH were revealed, and they were related to the mechanisms of inflammation, immunity, oxidative stress, and apoptosis. Conclusions: Fourteen miRNAs were associated with PH after mechanical reperfusion in the rat stroke and the OGD/R models. Simultaneously differentially expressed miRNAs and related genes in several cells of the neurovascular unit may serve as valuable targets for PH after endovascular thrombectomy in acute ischemic stroke. Full article
(This article belongs to the Special Issue Epigenetic Regulation and Its Impact for Medicine (2nd Edition))
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Review

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36 pages, 451 KiB  
Review
From Petri Dish to Primitive Heart: How IVF Alters Early Cardiac Gene Networks and Epigenetic Landscapes
by Charalampos Voros, Georgios Papadimas, Marianna Theodora, Despoina Mavrogianni, Diamantis Athanasiou, Ioakeim Sapantzoglou, Kyriakos Bananis, Antonia Athanasiou, Aikaterini Athanasiou, Charalampos Tsimpoukelis, Ioannis Papapanagiotou, Dimitrios Vaitsis, Aristotelis-Marios Koulakmanidis, Maria Anastasia Daskalaki, Vasileios Topalis, Nikolaos Thomakos, Panagiotis Antsaklis, Fotios Chatzinikolaou, Dimitrios Loutradis and Georgios Daskalakis
Biomedicines 2025, 13(8), 2044; https://doi.org/10.3390/biomedicines13082044 - 21 Aug 2025
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Abstract
Numerous infants have been conceived by in vitro fertilization (IVF) and other assisted reproductive technologies (ART). Increasing evidence indicates that these approaches induce minor alterations in molecules during the initial phases of embryogenesis. This narrative review examines the molecular pathophysiology of embryonic cardiogenesis [...] Read more.
Numerous infants have been conceived by in vitro fertilization (IVF) and other assisted reproductive technologies (ART). Increasing evidence indicates that these approaches induce minor alterations in molecules during the initial phases of embryogenesis. This narrative review examines the molecular pathophysiology of embryonic cardiogenesis in the context of assisted reproductive technology, emphasizing transcriptional and epigenetic regulation. Essential transcription factors for cardiac development, including NKX2-5, GATA4, TBX5, ISL1, MEF2C, and HAND1/2, play a crucial role in mesodermal specification, heart tube formation, and chamber morphogenesis. Animal models and human preimplantation embryos have demonstrated that ART-related procedures, including gamete micromanipulation, supraphysiological hormone exposure, and extended in vitro culture, can alter the expression or epigenetic programming of these genes. Subsequent to ART, researchers have identified anomalous patterns of DNA methylation, alterations in histones, and modifications in chromatin accessibility in cardiogenic loci. These alterations indicate that errors occurred during the initial reprogramming process, potentially resulting in structural congenital heart abnormalities (CHDs) or modifications in cardiac function later in life. Analysis of the placental epigenome in babies conceived using assisted reproductive technology reveals that imprinted and developmental genes critical for cardiac development remain dysfunctional. This review proposes a mechanistic theory about the potential subtle alterations in the cardiogenic gene network induced by ART, synthesizing findings from molecular embryology, transcriptomics, and epigenomics. Understanding these molecular issues is crucial not only for enhancing ART protocols but also for evaluating the cardiovascular risk of children conceived by ART postnatally and for early intervention. Full article
(This article belongs to the Special Issue Epigenetic Regulation and Its Impact for Medicine (2nd Edition))

Other

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23 pages, 646 KiB  
Systematic Review
Epigenetic Alterations in Ovarian Function and Their Impact on Assisted Reproductive Technologies: A Systematic Review
by Charalampos Voros, Antonia Varthaliti, Despoina Mavrogianni, Diamantis Athanasiou, Antonia Athanasiou, Aikaterini Athanasiou, Anthi-Maria Papahliou, Constantinos G. Zografos, Vasileios Topalis, Panagiota Kondili, Menelaos Darlas, Sophia Sina, Maria Anastasia Daskalaki, Marianna Theodora, Panos Antsaklis and Georgios Daskalakis
Biomedicines 2025, 13(3), 730; https://doi.org/10.3390/biomedicines13030730 - 17 Mar 2025
Cited by 2 | Viewed by 1882
Abstract
Background: Epigenetic modifications have an important role in controlling ovarian function, modulating ovarian response and implantation success in Assisted Reproductive Technologies (ART). The alterations, such as DNA methylation and non-coding RNA control, have been identified as key variables regulating ovarian physiology and [...] Read more.
Background: Epigenetic modifications have an important role in controlling ovarian function, modulating ovarian response and implantation success in Assisted Reproductive Technologies (ART). The alterations, such as DNA methylation and non-coding RNA control, have been identified as key variables regulating ovarian physiology and reproductive outcomes. This systematic review investigates the significance of epigenetic pathways in ovarian function, with an emphasis on their effect on ART success rates. Methods: A thorough search of the PubMed, Scopus, and EMBASE databases was performed to find articles published between 2015 and 2024 that investigated the connection between epigenetic changes and ovarian function in ART patients. Studies that examined miRNA expression, DNA methylation, and histone changes in follicular fluid, granulosa cells, and embryos were included. The study followed the PRISMA recommendations to guarantee scientific rigor and repeatability. The data were combined into a thorough study of epigenetic markers linked to ovarian aging, ovarian reserve, and implantation success. Results: A total of 15 studies satisfied the inclusion criteria, with substantial relationships found between distinct epigenetic markers and ovarian function. Changes in miRNA expression patterns in follicular fluid and granulosa cells were associated with oocyte maturation, ovarian reserve, and implantation potential. Women with low ovarian reserve and polycystic ovary syndrome (PCOS) have different DNA methylation patterns. MiR-27a-3p and miR-15a-5p were shown to be involved with granulosa cell malfunction and poor ovarian response, whereas global DNA hypomethylation was linked to ovarian aging and ART results. Conclusions: Epigenetic alterations affect ovarian function via pathways that control hormone signaling, follicular development, and implantation success. Further study is needed to determine the practical applicability of epigenetic biomarkers in predicting ART effectiveness and enhancing patient treatment procedures. Full article
(This article belongs to the Special Issue Epigenetic Regulation and Its Impact for Medicine (2nd Edition))
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