Role of DNA Methylation in Human Health and Diseases

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

Deadline for manuscript submissions: 28 February 2027 | Viewed by 2560

Editor


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Guest Editor
Department of Biochemistry and Molecular Biology, School of Medicine, Edward A. Doisy Research Center, Saint Louis University, St. Louis, MO, USA
Interests: DNA methylation; nucleosome complexes; chromatin remodeling; chromatin-associated protein complexes

Special Issue Information

Dear Colleagues,

DNA methylation is a fundamental epigenetic mechanism that regulates gene expression, maintains genomic stability, and shapes chromatin organization, thereby influencing cell fate across development and disease. This Special Issue, "Role of DNA Methylation in Human Health and Diseases", aims to compile high-quality research articles and reviews that advance our understanding of the dynamic mechanisms of DNA methylation in both physiological and pathological contexts. We seek to highlight studies that investigate the roles of DNA methylation in development, aging, cancer, neurological disorders, metabolic diseases, and immune responses.

Particular emphasis will be placed on mechanistic and translational insights, including the discovery of methylation-based biomarkers for early diagnosis and prognosis, as well as the development of novel epigenetic therapies. We especially welcome submissions that utilize cutting-edge technologies—such as structural biology, single-cell and multi-omics, and integrative computational approaches—to map methylation patterns, uncover regulatory mechanisms, and explore the therapeutic potential of modulating the epigenome.

This Special Issue seeks to highlight the principles of DNA methylation in human biology and foster innovative avenues for precision epigenetic interventions. We aim to provide a valuable resource for researchers bridging basic epigenetic mechanisms with translational applications, advancing precision medicine and improving patient outcomes.

Dr. Ting-Hai Xu
Guest Editor

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Keywords

  • DNA methylation
  • epigenetics
  • translational research
  • biomarker
  • gene regulation
  • epigenetic therapy

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Published Papers (1 paper)

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Review

28 pages, 2364 KB  
Review
DNA Methylation Dynamics in Development and Disease: Insights from Zebrafish Models
by Gan-Qiang Lai, Yan Yan, Mohini Sengupta and Ting-Hai Xu
Biomedicines 2026, 14(5), 1034; https://doi.org/10.3390/biomedicines14051034 - 1 May 2026
Viewed by 2108
Abstract
DNA methylation is a fundamental epigenetic modification that regulates gene expression, genome stability, and cell identity across vertebrate development. Disruption of DNA methylation homeostasis contributes to a wide spectrum of human diseases, including developmental disorders, neurological conditions, and cancer. Understanding how DNA methylation [...] Read more.
DNA methylation is a fundamental epigenetic modification that regulates gene expression, genome stability, and cell identity across vertebrate development. Disruption of DNA methylation homeostasis contributes to a wide spectrum of human diseases, including developmental disorders, neurological conditions, and cancer. Understanding how DNA methylation patterns are established, maintained, and dynamically remodeled during development is therefore essential for elucidating disease mechanisms and identifying therapeutic opportunities. The zebrafish (Danio rerio) has emerged as a powerful vertebrate model for investigating DNA methylation dynamics in vivo. Its external fertilization, optical transparency, rapid embryogenesis, and high fecundity enable direct observation and experimental manipulation of epigenetic processes at developmental stages that are difficult to access in mammalian systems. In addition, the core enzymatic machinery governing DNA methylation, including DNA methyltransferase (DNMT) and ten-eleven translocation (TET) protein families, is evolutionarily conserved between zebrafish and humans. In this review, we summarize current knowledge of the zebrafish methylome and the enzymatic regulators that control DNA methylation dynamics. We discuss how DNA methylation shapes early embryonic development, organogenesis, and cell fate decisions, and highlight insights gained from zebrafish models of human disease. Finally, we examine emerging technologies that are enabling increasingly precise interrogation of epigenetic regulation in vivo. Together, these advances position zebrafish as an important platform for bridging developmental epigenetics with human disease biology and therapeutic discovery. Full article
(This article belongs to the Special Issue Role of DNA Methylation in Human Health and Diseases)
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