Short Notes on DNA Methylation and Importance of Precision Medicine for Idiopathic Pulmonary Fibrosis

Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

Mini Review - (2023) Volume 17, Issue 1

Short Notes on DNA Methylation and Importance of Precision Medicine for Idiopathic Pulmonary Fibrosis

Gilbert Tortora*
*Correspondence: Gilbert Tortora, Department of Science, University of Melbourne, Parkville VIC 3010, Australia, Email:
Department of Science, University of Melbourne, Parkville VIC 3010, Australia

Received: 01-Jan-2023, Manuscript No. jmgm-23-94441; Editor assigned: 03-Jan-2023, Pre QC No. P-94441; Reviewed: 14-Jan-2023, QC No. Q-94441; Revised: 20-Jan-2023, Manuscript No. R-94441; Published: 27-Jan-2023 , DOI: 10.37421/1747-0862.2023.17.594
Citation: Tortora, Gilbert. “Short Notes on DNA Methylation and Importance of Precision Medicine for Idiopathic Pulmonary Fibrosis.” J Mol Genet Med 17 (2023): 594.
Copyright: © 2023 Tortora G. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive lung disease with unknown etiology that leads to the formation of scar tissue in the lungs. Although the molecular mechanisms underlying IPF remain unclear, epigenetic changes have been implicated in the disease pathogenesis. Epigenetics refers to modifications to DNA and histones that alter gene expression without changing the DNA sequence itself. These modifications include DNA methylation, histone modifications, and non-coding RNA expression, all of which are influenced by environmental factors. Epigenetic changes have been observed in IPF, particularly alterations in DNA methylation and histone modifications. Studies have identified DNA methylation changes in genes related to extracellular matrix remodeling, inflammation, and oxidative stress, which are all pathways that are dysregulated in IPF.In addition, histone modifications, such as histone acetylation and methylation, have been shown to regulate the expression of genes involved in fibrosis and inflammation. Given the potential role of epigenetic changes in IPF, precision medicine approaches targeting epigenetic modifications have been proposed as a potential therapeutic strategy. One approach is the use of drugs that target specific epigenetic enzymes, such as histone deacetylases (HDACs) and DNA methyltransferases (DNMTs), which are involved in histone and DNA modifications, respectively. For example, HDAC inhibitors have been shown to reduce fibrosis and improve lung function in animal models of IPF. However, the use of these drugs in human clinical trials has been limited due to their potential side effects and lack of specificity


Histone deacetylases • Methylation • DNA methyltransferase


DNA methylation is a biochemical process that involves the addition of a methyl group to a DNA molecule, usually to a cytosine base in a CpG dinucleotide context. This process is important for regulating gene expression and plays a critical role in various biological processes, including embryonic development, imprinting, X-chromosome inactivation, and carcinogenesis. Methylation occurs when a DNA methyltransferase enzyme transfers a methyl group from S-adenosyl methionine to the carbon-5 position of the cytosine ring. The result is 5-methylcytosine (5mC), which can be further modified to other forms of methylated cytosines, such as 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), and 5-carboxylcytosine (5caC).The presence of methyl groups on DNA can affect gene expression by altering the accessibility of the DNA to transcription factors and other proteins. Methylated DNA is generally associated with gene silencing, while unmethylated DNA is associated with active gene expression. The patterns of DNA methylation are often heritable and can be passed down from one generation to the next [1-3]. In summary, DNA methylation is an important epigenetic mechanism that plays a critical role in regulating gene expression and various biological processes.

Another approach is the use of non-coding RNA molecules, such as microRNAs (miRNAs) and long non-coding RNAs (lncRNAs), which regulate gene expression at the post-transcriptional level. Dysregulation of miRNAs has been implicated in IPF, and studies have shown that restoring miRNA expression can reduce fibrosis and improve lung function in animal models. Similarly, lncRNAs have been shown to play a role in IPF pathogenesis, and targeting specific lncRNAs has been proposed as a potential therapeutic strategy. In conclusion, epigenetic changes play a role in the pathogenesis of IPF, and precision medicine approaches targeting these changes have the potential to be effective therapies for this disease. While more research is needed to understand the specific epigenetic changes involved in IPF and to develop targeted therapies with minimal side effects, these approaches represent an exciting new avenue for the treatment of this debilitating disease.

Literature Review

The epigenetics process, rather than DNA, is used to transmit genetic information. Epigenetics is the study of molecular missing link pathways that may bridge the genetic and environmental risk factors that contribute to the pathogenesis of pulmonary fibrosis. Endophenotypes underlying the development of idiopathic pulmonary fibrosis are affected by specific epigenetic patterns, particularly DNA methylation, histone modifications, long non-coding RNA (lncRNA), and microRNA (miRNA). (IPF). DNA methylation modifications have been the most extensively studied epigenetic marks in IPF. This review summarises current knowledge about DNA methylation changes in pulmonary fibrosis and shows a promising novel epigenetics-based precision medicine approach [4,5].

IPF is a chronic, debilitating, and irreversible lung disease characterised by microinjury-induced alveolar epithelial cell stress, pathogenic myofibroblast differentiation, imbalanced macrophage polarization, and extensive extracellular matrix deposition. (ECM). IPF progression is associated with decreased lung function, progressive respiratory failure, high mortality, recurrent acute exacerbations, and an overall poor prognosis. On histopathological and/ or radiological examination, IPF is distinguished by heterogeneous areas of normal-appearing lung intermixed with collagenized fibrosis in sub-pleural and paraseptal, a honeycombing pattern, and ECM-producing myofibroblasts referred to as fibroblast foci.


According to a recent hypothesis, recurrent injuries cause epithelial cells to transdifferentiate into fibroblast epithelial-mesenchymal transition (EMT), which may induce fibrosis independently of inflammatory events. Despite the lack of an explicit mechanism, several pieces of evidence suggest that alveolar epithelial injury caused by environmental triggers results in lung fibrosis. Recurrent microenvironment injury to senescent epithelial cells in genetically susceptible individuals results in abnormal fibroblast activation, accumulating ECM, and fibrosis. The pathogenic mechanisms underlying the onset, development, and progression of IPF are unknown. Many studies, however, have shown that in older people, dynamic interactions of genetic susceptibility, environmental factors, and host risk factors contribute to epigenetic pro-fibrotic reprogramming, resulting in the development of IPF. Hey et al. discovered a strong link between microenvironment-driven epigenetic changes and macrophage inflammation and polarization [6,7].

Omics-based approaches, which include high-throughput technologies that provide snapshots of a holistic view of the molecules that make up a cell, tissue, or organism, include: genomics, which measures deoxyribonucleic acid (DNA) sequence variation; epigenomics, which focuses on the genomewide characterization of reversible modifications of DNA or DNA alterations; transcriptomics, which evaluates the standard of ribonucleic acid (RNA) expression; and (4) Pulmonary disease omics research has primarily focused on tissue- and cell-specific omics data and has identified several fundamental mechanisms underlying pulmonary biological processes, disease endotypes, and appropriate novel therapeutics for specific individuals.


Epigenomics is the study of gene expression via epigenetic mechanisms such as DNA methylation, RNA, and histone modification. Because these components interact and stabilise one another, disrupting epigenetic nucleosomes can result in their inappropriate expression, resulting in epigenetic disorders. Epigenetics and epigenomics can help us understand how our environment influences our phenotype. Hi-C, a comprehensive technique developed to capture chromosome conformation, and another tool for whole genome methylation profiling: MBDisolated genome sequencing are commonly used in epigenomics studies. (MiGS). These authors thoroughly examine the technical and experimental parameters that must be considered when designing epigenomic experiments.



Conflict of Interest

Authors declare no conflict of interest.


  1. Filipponi, Doria, Julius Muller, Alexander Emelyanov and Dmitry V. Bulavin. "Wip1 controls global heterochromatin silencing via ATM/BRCA1-dependent DNA methylation."Cancer cell24 (2013): 528-541.
  2. Google Scholar, Crossref, Indexed at

  3. Anjum, Shahzia, Evangelia-Ourania Fourkala, Michal Zikan and Andrew Wong, et al. "A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival." Genome Med 6 (2014): 1-11.
  4. Google Scholar, Crossref, Indexed at

  5. Archey, William B., Kristen A. McEachern, Mark Robson and Kenneth Offit, et al. "Increased CpG methylation of the estrogen receptor gene in BRCA1-linked estrogen receptor-negative breast cancers." Oncogene 21 (2002): 7034-7041.
  6. Google Scholar, Crossref, Indexed at

  7. Kalb, Reinhard, Donna L. Mallery, Conor Larkin and Jeffrey TJ Huang, et al. "BRCA1 is a histone-H2A-specific ubiquitin ligase." Cell Rep 8 (2014): 999-1005.
  8. Google Scholar, Crossref, Indexed at

  9. Ren, Juan, Yongli Chu, Hongbing Ma and Yuelang Zhang, et al. "Epigenetic interventions increase the radiation sensitivity of cancer cells." Curr Pharm Des 20 (2014): 1857-1865.
  10. Google Scholar, Crossref, Indexed at

  11. Tate, Chandra R., Lyndsay V. Rhodes, H. Chris Segar and Jennifer L. Driver, et al. "Targeting triple-negative breast cancer cells with the histone deacetylase inhibitor panobinostat." Breast Cancer Res 14 (2012): 1-15.
  12. Google Scholar, Crossref, Indexed at

  13. Al-Othman, Nihad, Mamoun Ahram and Moath Alqaraleh. "Role of androgen and microRNA in triple-negative breast cancer." Breast Dis 39 (2020): 15-27.
  14. Google Scholar, Crossref, Indexed at

Google Scholar citation report
Citations: 3652

Molecular and Genetic Medicine received 3652 citations as per Google Scholar report

Molecular and Genetic Medicine peer review process verified at publons

Indexed In

arrow_upward arrow_upward