DNA Methylation and Epigenetics

A special issue of Biology (ISSN 2079-7737).

Deadline for manuscript submissions: closed (30 November 2021) | Viewed by 2414

Special Issue Editor


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Guest Editor
Clinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, 5-16147 Genova, Italy
Interests: bioinformatics; machine learning; epigenetics; molecular epidemiology; DNA methylation
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Special Issue Information

Dear Colleagues,

Recent studies indicate that epigenetics, specifically DNA methylation, plays a crucial role in healthy aging, chronic conditions, and age-related diseases including cancer, cardiovascular diseases, and mental disorders. Two main mechanisms contribute to age-related DNA methylation changes: ‘epigenetic drift’ and ‘epigenetic clocks’. Epigenetic clocks are a small set of CpGs in the human genome useful for estimating the biological age and overall state of health of an individual. The literature distinguishes between first-generation clocks, which are trained on chronological age only, and second-generation clocks, which are trained on age and a set of biological measures that in turn are associated with health status and longevity. In contrast, epigenetic drift is a mechanism that involves the whole genome, suggesting a global dysregulation of DNA methylation patterns with age. Two critical aspects of epigenetic drift are genomic instability and chromatin deterioration during aging, leading to an accumulation of epigenetic mutations (‘epimutations’), i.e., changes in gene activity not involving DNA mutations but rather a gain or loss of DNA methyl groups, which are conserved in cells during mitosis.

Investigation in this field may help us to identify diagnostic and prognostic disease biomarkers (possibly non-invasively using blood samples), molecular mechanisms responsible for the development of cancer, cardiovascular diseases, and mental diseases, and possible therapeutic targets.

Prof. Giovanni Fiorito
Guest Editor

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Keywords

  • epigenetics
  • DNA methylation
  • diagnostic biomarkers
  • prognostic biomarkers
  • age-related diseases
  • therapeutic targets.

Published Papers (1 paper)

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Research

12 pages, 1396 KiB  
Article
DNA Methylation Levels of the TBX5 Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients
by Esbeidy García-Flores, José Manuel Rodríguez-Pérez, Verónica Marusa Borgonio-Cuadra, Gilberto Vargas-Alarcón, Juan Calderón-Colmenero, Juan Pablo Sandoval, José Antonio García-Montes, Víctor Manuel Espinoza-Gutiérrez, Juan Gerardo Reyes-García, Benny Giovanni Cazarín-Santos, Antonio Miranda-Duarte, Armando Gamboa-Domínguez and Nonanzit Pérez-Hernández
Biology 2022, 11(1), 96; https://0-doi-org.brum.beds.ac.uk/10.3390/biology11010096 - 08 Jan 2022
Cited by 4 | Viewed by 1705
Abstract
The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). The aim of this research was to evaluate the association between DNA methylation levels of the TBX5 gene promoter and [...] Read more.
The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). The aim of this research was to evaluate the association between DNA methylation levels of the TBX5 gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the TBX5 gene promoter were evaluated using pyrosequencing analysis in 35 patients with congenital septal defects and 48 controls. Average methylation levels were higher in individuals with congenital septal defects than in the controls (p < 0.004). In five CpG sites, we also found higher methylation levels in patients than in the controls (p < 0.05). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02–14.8; p = 0.045). The analysis of Receiver Operating Characteristic (ROC) showed that the methylation levels of the TBX5 gene could be used as a risk marker for congenital septal defects (AUC = 0.68, 95% CI = 0.56–0.80; p = 0.004). Finally, an analysis of environmental factors indicated that maternal infections increased the risk (OR = 2.90; 95% CI = 1.01–8.33; p = 0.048) of congenital septal defects. Our data suggest that a high DNA methylation of the TBX5 gene could be associated with congenital septal defects. Full article
(This article belongs to the Special Issue DNA Methylation and Epigenetics)
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