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Epigenetic Mechanisms and Human Pathology 4.0
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Epigenetic Mechanisms and Human Pathology 4.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 September 2024 | Viewed by 4433

Special Issue Editors

Dr. Paweł Andrzej Karpiński

E-Mail Website
Guest Editor
Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland
Interests: epigenetics; bioinformatics; cancer microenvironment; cancer immunology; tumor subtyping
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Maria M. Sasiadek

E-Mail Website
Guest Editor
Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland
Interests: DNA methylation; epigenetics; protein tyrosine phosphatases; tyrosine receptor; dephosphorylation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is the third volume of our previous Special Issue, “Epigenetic Mechanisms and Human Pathology 3.0”. Growing evidence indicates that addressing the direct effects of genetic and environmental factors might be insufficient for understanding the mechanisms underlying the complexity of human pathologies. The recognition of epigenetic mechanisms has largely improved our understanding of human diseases. The term “epigenetics” refers to several molecular mechanisms that impact DNA expression without altering its sequence. The epigenetic regulation of gene expression includes three main mechanisms, i.e., DNA methylation, histone modifications, and non-protein-coding RNAs (npcRNAs), which play a fundamental role in all of the molecular processes in living organisms. Consequently, any alterations in these mechanisms may result in a whole range of human pathologies, including pediatric, psychiatric, neurologic, and endocrine disorders, as well as cancer and non-communicable chronic adulthood diseases. The mostly reversible nature of epigenetic alterations provides grounds for developing novel treatment targets and personalized therapies.

This Special Issue of the International Journal of Molecular Sciences, entitled “Epigenetic Mechanisms and Human Pathology”, shall serve as a forum with which to present critical reviews and reviews of the state of the art, as well as original papers discussing the application of epigenetic approaches to the etiology, diagnostics, and therapy of a variety of diseases.

Contributions from leading international investigators will guarantee a broad and comprehensive analysis of potential epigenetic mechanisms as well as related clinical problems.

Dr. Paweł Andrzej Karpiński
Prof. Dr. Maria M. Sasiadek
Guest Editors

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • epigenetics
  • human pathology
  • cancer
  • DNA methylation
  • npcRNA
  • histone modification
  • personalized therapy

Related Special Issue

Published Papers (4 papers)

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Research

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17 pages, 2597 KiB  
Article
Epigenetic Activation of TUSC3 Sensitizes Glioblastoma to Temozolomide Independent of MGMT Promoter Methylation Status
by Qiong Wu, Anders E. Berglund, Robert J. Macaulay and Arnold B. Etame
Int. J. Mol. Sci. 2023, 24(20), 15179; https://doi.org/10.3390/ijms242015179 - 14 Oct 2023
Viewed by 1167
Abstract
Temozolomide (TMZ) is an important first-line treatment for glioblastoma (GBM), but there are limitations to TMZ response in terms of durability and dependence on the promoter methylation status of the DNA repair gene O6-methylguanine DNA methyltransferase (MGMT). MGMT-promoter-hypermethylated (MGMT-M) [...] Read more.
Temozolomide (TMZ) is an important first-line treatment for glioblastoma (GBM), but there are limitations to TMZ response in terms of durability and dependence on the promoter methylation status of the DNA repair gene O6-methylguanine DNA methyltransferase (MGMT). MGMT-promoter-hypermethylated (MGMT-M) GBMs are more sensitive to TMZ than MGMT-promoter-hypomethylated (MGMT-UM) GBMs. Moreover, TMZ resistance is inevitable even in TMZ-sensitive MGMT-M GBMs. Hence, epigenetic reprogramming strategies are desperately needed in order to enhance TMZ response in both MGMT-M and MGMT-UM GBMs. In this study, we present novel evidence that the epigenetic reactivation of Tumor Suppressor Candidate 3 (TUSC3) can reprogram sensitivity of GBM stem cells (GSCs) to TMZ irrespective of MGMT promoter methylation status. Interrogation of TCGA patient GBM datasets confirmed TUSC3 promoter regulation of TUSC3 expression and also revealed a strong positive correlation between TUSC3 expression and GBM patient survival. Using a combination of loss-of-function, gain-of-function and rescue studies, we demonstrate that TUSC3 reactivation is associated with enhanced TMZ response in both MGMT-M and MGMT-UM GSCs. Further, we provide novel evidence that the demethylating agent 5-Azacitidine (5-Aza) reactivates TUSC3 expression in MGMT-M GSCs, whereas the combination of 5-Aza and MGMT inhibitor Lomeguatrib is necessary for TUSC3 reactivation in MGMT-UM GSCs. Lastly, we propose a pharmacological epigenetic reactivation strategy involving TUSC3 that leads to significantly prolonged survival in MGMT-M and MGMT-UM orthotopic GSCs models. Collectively, our findings provide a framework and rationale to further explore TUSC3-mediated epigenetic reprogramming strategies that could enhance TMZ sensitivity and outcomes in GBM. Mechanistic and translational evidence gained from such studies could contribute towards optimal design of impactful trials for MGMT-UM GBMs that currently do not have good treatment options. Full article
(This article belongs to the Special Issue Epigenetic Mechanisms and Human Pathology 4.0)
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Review

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25 pages, 1418 KiB  
Review
MicroRNAs: The Missing Link between Hypertension and Periodontitis?
by Nelia M. Rodriguez, Pía Loren, Isis Paez, Constanza Martínez, Alejandra Chaparro and Luis A. Salazar
Int. J. Mol. Sci. 2024, 25(4), 1992; https://doi.org/10.3390/ijms25041992 - 06 Feb 2024
Viewed by 788
Abstract
Cardiovascular diseases are the leading cause of death worldwide, and arterial hypertension is a recognized cardiovascular risk factor that is responsible for high morbidity and mortality. Arterial hypertension is the result of an inflammatory process that results in the remodeling and thickening of [...] Read more.
Cardiovascular diseases are the leading cause of death worldwide, and arterial hypertension is a recognized cardiovascular risk factor that is responsible for high morbidity and mortality. Arterial hypertension is the result of an inflammatory process that results in the remodeling and thickening of the vascular walls, which is associated with an immunological response. Previous studies have attempted to demonstrate the relationship between oral disease, inflammation, and the development of systemic diseases. Currently, the existence of an association between periodontitis and hypertension is a controversial issue because the underlying pathophysiological processes and inflammatory mechanisms common to both diseases are unknown. This is due to the fact that periodontitis is a chronic inflammatory disease that affects the interface of teeth and surrounding tissues. However, the most likely explanation for understanding this association is related to low-grade chronic inflammation. An initial path in the study of the relationship between the mentioned pathologies is the possibility of an epigenetic influence, mediated by noncoding RNAs as microRNAs. Thus, in the present review we describe the role of microRNAs related to arterial hypertension and/or periodontitis. In addition, we identified 13 common microRNAs between periodontitis and hypertension. According to the predictions of the DIANA-mirPath program, they can regulate genes involved in 52 signaling pathways. Full article
(This article belongs to the Special Issue Epigenetic Mechanisms and Human Pathology 4.0)
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18 pages, 1134 KiB  
Review
Exploring Potential Epigenetic Biomarkers for Colorectal Cancer Metastasis
by Priyadarshana Ajithkumar, Sai Shyam Vasantharajan, Sharon Pattison, John L. McCall, Euan J. Rodger and Aniruddha Chatterjee
Int. J. Mol. Sci. 2024, 25(2), 874; https://doi.org/10.3390/ijms25020874 - 10 Jan 2024
Cited by 1 | Viewed by 1183
Abstract
Metastatic progression is a complex, multistep process and the leading cause of cancer mortality. There is growing evidence that emphasises the significance of epigenetic modification, specifically DNA methylation and histone modifications, in influencing colorectal (CRC) metastasis. Epigenetic modifications influence the expression of genes [...] Read more.
Metastatic progression is a complex, multistep process and the leading cause of cancer mortality. There is growing evidence that emphasises the significance of epigenetic modification, specifically DNA methylation and histone modifications, in influencing colorectal (CRC) metastasis. Epigenetic modifications influence the expression of genes involved in various cellular processes, including the pathways associated with metastasis. These modifications could contribute to metastatic progression by enhancing oncogenes and silencing tumour suppressor genes. Moreover, specific epigenetic alterations enable cancer cells to acquire invasive and metastatic characteristics by altering cell adhesion, migration, and invasion-related pathways. Exploring the involvement of DNA methylation and histone modification is crucial for identifying biomarkers that impact cancer prediction for metastasis in CRC. This review provides a summary of the potential epigenetic biomarkers associated with metastasis in CRC, particularly DNA methylation and histone modifications, and examines the pathways associated with these biomarkers. Full article
(This article belongs to the Special Issue Epigenetic Mechanisms and Human Pathology 4.0)
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15 pages, 1246 KiB  
Review
Methylation of the Vitamin D Receptor Gene in Human Disorders
by Beatrice Gasperini, Angela Falvino, Eleonora Piccirilli, Umberto Tarantino, Annalisa Botta and Virginia Veronica Visconti
Int. J. Mol. Sci. 2024, 25(1), 107; https://doi.org/10.3390/ijms25010107 - 20 Dec 2023
Cited by 1 | Viewed by 925
Abstract
The Vitamin D Receptor (VDR) mediates the actions of 1,25-Dihydroxvitamin D3 (1,25(OH)2D3), which has important roles in bone homeostasis, growth/differentiation of cells, immune functions, and reduction of inflammation. Emerging evidences suggest that epigenetic modifications of the VDR gene, particularly [...] Read more.
The Vitamin D Receptor (VDR) mediates the actions of 1,25-Dihydroxvitamin D3 (1,25(OH)2D3), which has important roles in bone homeostasis, growth/differentiation of cells, immune functions, and reduction of inflammation. Emerging evidences suggest that epigenetic modifications of the VDR gene, particularly DNA methylation, may contribute to the onset and progression of many human disorders. This review aims to summarize the available information on the role of VDR methylation signatures in different pathological contexts, including autoimmune diseases, infectious diseases, cancer, and others. The reversible nature of DNA methylation could enable the development of therapeutic strategies, offering new avenues for the management of these worldwide diseases. Full article
(This article belongs to the Special Issue Epigenetic Mechanisms and Human Pathology 4.0)
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