Epigenetics in Human Development and Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 25 March 2025 | Viewed by 1081

Special Issue Editors


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Guest Editor
Centre of Exact and Natural Sciences, Molecular Biology Department, Federal University of Paraíba, Cidade Universitária—Campus I, João Pessoa 58051-900, PB, Brazil
Interests: epigenetic; DNA methylation; oral diseases; multifactorial diseases; genetic
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department of Cell Biology, University Federal of Paraná, Curitiba, PR, Brazil
Interests: genetic; epigenetic; human development and diseases; oral diseases; molecular biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The molecular era has unraveled aspects of epigenetics in development and disease in humans. The great advancements in this area mainly come from data referring to tumor diseases; however, epigenetic aspects of human development and in inflammatory and mental diseases are still neglected in this regard. Epigenetic markers (DNA methylation, RNA methylation, histone modification, and micro-RNAs) can be used as biomarkers and, since they are reversible, they can also be targets for treatments. In addition to genetic studies, the epigenetic approach can contribute to precision medicine, a healthcare model which advocates for the construction of biological databases for each individual based on concepts of classical genetics, epigenetic marks, metabolomics, and aspects of the patient's clinical phenotype, enabling the establishment of more accurate lines of diagnosis and treatment. This is a promising perspective that could be applied for reducing healthcare costs and lessening patient suffering.

The types of manuscripts we are interested in include original research, reviews, mini reviews, and case reports.

Specific themes include:

  1. DNA methylation and RNA methylation marks which are involved in human development and disease;
  2. Histone modification marks including methylation, acetylation, etc., which are involved in human development and disease;
  3. Non-coding RNA expression, including miRNA, lncRNA, etc., which are involved in human development and disease;
  4. Studies with epigenetic drugs will also be considered.

Dr. Naila Francis Paulo De Oliveira
Dr. Maria Cristina Leme Godoy dos Santos
Guest Editors

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Keywords

  • health development
  • inflammatory diseases
  • mental diseases
  • tumor diseases
  • epigenetic drugs

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Published Papers (1 paper)

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Review

23 pages, 1024 KiB  
Review
Can Global DNA Methylation Be Influenced by Polymorphisms in Genes Involved in Epigenetic Mechanisms? A Review
by Naila Francis Paulo de Oliveira, Darlene Camati Persuhn and Maria Cristina Leme Godoy dos Santos
Genes 2024, 15(12), 1504; https://doi.org/10.3390/genes15121504 - 24 Nov 2024
Viewed by 769
Abstract
Background: Global methylation refers to the total methylation in the DNA and can also be inferred from the Line 1 and Alu regions, as these repeats are very abundant in the genome. The main function of DNA methylation is to control gene expression [...] Read more.
Background: Global methylation refers to the total methylation in the DNA and can also be inferred from the Line 1 and Alu regions, as these repeats are very abundant in the genome. The main function of DNA methylation is to control gene expression and is associated with both normal and pathological mechanisms. DNA methylation depends on enzymes that generate the methyl radical (e.g., methylenetetrahydrofolate reductase—MTHFR) and attach this radical to the DNA (DNA methyltransferases—DNMT). Genetic variants such as single nucleotide polymorphisms (SNP) in these genes can lead to changes in the activity or expression of MTHFR and DNMT proteins and consequently influence the DNA methylation profile. This review focuses on studies investigating inter-individual variations in the global DNA methylation profile associated with genetic polymorphisms in the MTHFR and DNMT genes. Methods: A narrative review was conducted, taking into account articles published in the last 15 years. Results: It was found that the SNPs rs1801131, rs1801133 and rs1537514 in the MTHFR gene, rs2241531, rs2228611, rs2228612, rs21124724 and the haplotype rs2288349, rs2228611, rs2228612, rs16999593 in the DNMT1 gene, rs2424909, rs998382, rs6058891, rs6058897, rs4911256, rs2889703 and rs1883729 in the DNMT3B were associated with the level of global DNA methylation, including LINE and Alu regions in different contexts. No association was found with polymorphisms in the DNMT3A gene. Conclusions: It is concluded that polymorphisms in the MTHFR and DNMT genes may influence the global DNA methylation profile in health, inflammation, tumours and mental illness. Full article
(This article belongs to the Special Issue Epigenetics in Human Development and Diseases)
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