Epigenetic Regulation and Its Impact for Medicine (3rd 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 July 2026 | Viewed by 494

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Department of Medical Genetics, Third Faculty of Medicine, Charles University, Ruska 87, Vinohrady, 10000 Prague, Czech Republic
Interests: transplantation immunogenetics; immunogenetics of autoimmune multifactorial diseases (T1D, RA, JIA, SLE); etiopatogenesis of multifactorial diseases associated with metabolic syndrome X; type 2 diabetes mellitus and its complications (diabetic nephropathy)
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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 enabling novel discoveries only possible through the use of these tools. 

Plenty of studies have focused on the identification of possible biomarkers that are 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 a 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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Research

21 pages, 4713 KB  
Article
SLC6A4 Gene Methylation in Premature Infants Undergoing Kangaroo Mother Care: A Prospective Longitudinal Study
by Bruna Suzarte Campelo, Maria Clara de Magalhães-Barbosa, Aline de Araújo Brasil, Patrícia de Padua Andrade Campanha, Leo Travassos Vieira Milone, Paulo Victor Barbosa Eleuterio dos Santos, Stephanie Cristina Alves de Oliveira Saide, Vitor Barreto Paravidino, Jaqueline Rodrigues Robaina, Mariana Barros Genuino de Oliveira, Antonio José Ledo Alves da Cunha and Arnaldo Prata-Barbosa
Biomedicines 2026, 14(6), 1269; https://doi.org/10.3390/biomedicines14061269 - 2 Jun 2026
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Abstract
Background/Objectives: Kangaroo Mother Care (KMC) has been proposed as a protective intervention that may modulate the epigenetic regulation of stress-related genes, such as SLC6A4, which encodes the serotonin transporter. Few studies have explored this association in humans. This study aimed to evaluate [...] Read more.
Background/Objectives: Kangaroo Mother Care (KMC) has been proposed as a protective intervention that may modulate the epigenetic regulation of stress-related genes, such as SLC6A4, which encodes the serotonin transporter. Few studies have explored this association in humans. This study aimed to evaluate whether KMC affects the methylation status of SLC6A4 in preterm newborns. Methods: This longitudinal observational study included preterm infants with birth weight ≤ 1800 g and gestational age between 25 and 34 weeks. Blood samples were collected at birth, Neonatal Intensive Care Unit discharge, and hospital discharge. Methylation levels at 13 CpG sites within the SLC6A4 promoter region were quantified by bisulfite conversion and pyrosequencing. Methylation dynamics were analyzed using linear mixed-effects models adjusted for clinical covariates. Results: 75 preterm infants were analyzed (51 KMC; 24 non-KMC). Methylation levels ranged from 0.78% to 10.76% across all CpG sites and remained stable over time. At hospital discharge, the KMC group exhibited lower methylation at CpG6 than the non-KMC group (median = 0.96% vs. 1.21%, p = 0.021), but this difference was not statistically significant after correction for multiple testing. No significant differences were observed at other sites or in longitudinal methylation trajectories between groups. Conclusions: KMC was not associated with major longitudinal changes in SLC6A4 methylation during the neonatal period. The nominal difference at CpG6 should be interpreted as exploratory and warrants further investigation. Larger, multicenter studies with long-term follow-up are needed to clarify the epigenetic mechanisms linking early caregiving experiences with stress regulation and neurodevelopmental outcomes in preterm infants. Full article
(This article belongs to the Special Issue Epigenetic Regulation and Its Impact for Medicine (3rd Edition))
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