DNA methylation
DNA methylation is a fundamental epigenetic modification in which a methyl group (–CH₃) is covalently added to the fifth carbon of cytosine residues, primarily at cytosine-phosphate-guanine (CpG) dinucleotides, through the enzymatic action of DNA methyltransferases (DNMTs).
DNA methylation is a fundamental epigenetic modification in which a methyl group (–CH₃) is covalently added to the fifth carbon of cytosine residues, primarily at cytosine-phosphate-guanine (CpG) dinucleotides, through the enzymatic action of DNA methyltransferases (DNMTs). This reversible chemical modification does not alter the underlying nucleotide sequence but profoundly influences gene expression by modulating chromatin accessibility and the binding of transcriptional regulators. Hypermethylation of gene promoter regions is canonically associated with transcriptional silencing, while hypomethylation is associated with gene activation — a balance that is critical for normal development, tissue differentiation, and cellular homeostasis.
As one of the most extensively studied epigenetic mechanisms, DNA methylation serves as a molecular interface between the genome and the environment, translating external signals — including diet, toxin exposure, lifestyle, and aging — into durable changes in gene regulatory programs. It operates in concert with complementary epigenetic processes such as histone modification and chromatin remodeling, and its aberrant patterning underlies a broad spectrum of human diseases, most notably cancer, metabolic disorders, neurocognitive conditions, and cardiovascular disease. The reversibility of DNA methylation marks makes DNMTs and their regulatory networks attractive targets for pharmacological intervention, driving a rapidly expanding field of epigenome-targeted therapeutics.
Where the papers sit
12 papers from the last 6 months study DNA methylation directly · updated from PubMed 3 Oct 2026
Study type 0 clinical trials · 1 observational · 7 human data · 2 preclinical · 2 unclassified
Themes 3 themes
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Epigenetic Health Risk
Epigenetic markers are being tested as contributors to obesity, diabetes, blood pressure, cardiovascular risk, and skeletal development rather than treated as passive correlates. Mendelian randomisation probes causality in diabetes and early-life risk, while methylation editing of runx2 b examines inheritance of an acquired bone phenotype. PPAR signaling and transcription-factor regulation connect environmental exposure to downstream traits. Evidence remains trait- and age-specific, moving the field toward causal validation rather than a unified clinical intervention.
5 papers · 41.7%
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Cancer Methylation Biomarkers
DNA methylation is being developed as a cancer classifier and minimally invasive risk marker, with circulating cell-free DNA used to detect advanced breast cancer and classify estrogen receptor status. Pan-cancer models seek broad diagnostic performance, while tissue methylomes distinguish upper aerodigestive tract and sarcomatoid squamous carcinomas. In hepatocellular carcinoma, methylation-linked biomarkers such as PSMA1, PSMA5, and PSMB2 are tied to prognosis and tumor-infiltrating leukocytes. The recurring goal is clinically useful stratification, although cross-cancer generalization and biological interpretation remain open.
4 papers · 33.3%
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Others — Methylation and Metabolic Biomarkers
DNA methylation is being combined with metabolomics and molecular surveillance to connect epigenetic states with disease activity. In SLE, integrated signatures are associated with flare remission, while an epigenetic liquid biopsy tracks high-risk neuroblastoma without requiring a recurrent mutation. In metabolic dysfunction-associated fatty liver disease, DNMT-related control of the urea cycle is examined as a treatment mechanism, with bilirubin and metabolic measures among the readouts. The shared direction is biomarker-guided monitoring and mechanism, but the diseases and endpoints are too disparate to form one coherent programme.
3 papers · 25%
Papers
The 12 papers from the last 6 months that study DNA methylation directly, newest first, by theme and by study type. Study types come from PubMed publication types and MeSH headings.
By theme
Epigenetic Health Risk (5)
- Inheritance of the epigenetic signature and reduced intermuscular bone phenotype acquired via DNA methylation editing of the runx2 b promoter in zebrafish. Zoological research · 13 Sept 2026 PMID 42733042
- DNA methylation informs adult cardiovascular risk and prevention for low birthweight individuals. Journal of global health · 14 Aug 2026 PMID 42596884
- Epigenetics and Childhood Obesity: DNA Methylation Coordinates Environment and Gene Regulation. Endocrine reviews · 12 May 2026 PMID 42116681
- Age-varying DNA methylation patterns associated with blood pressure in mid-to-late adulthood. Clinical epigenetics · 7 May 2026 PMID 42092955
- Causal relationship between epigenetic markers and type 2 diabetes in West African populations: a Mendelian randomisation analysis. Diabetologia · 24 Apr 2026 PMID 42032377
Cancer Methylation Biomarkers (4)
- PSMA1, PSMA5, and PSMB2 serve as prognostic biomarkers and are correlated with tumor-infiltrating leukocytes in HCC. Epigenetics · 14 Sept 2026 PMID 42735232
- DNA Methylation Signatures of Upper Aerodigestive Tract Squamous Cell Carcinoma and Sarcomatoid Squamous Cell Carcinoma Are Similar: A Potential Novel Diagnostic Tool for the Diagnosis of Sarcomatoid Squamous Cell Carcinoma. Head and neck pathology · 5 Aug 2026 PMID 42552441
- Circulating Cell-Free DNA Methylation Profiling Enables Detection, Distinction, and Estrogen Receptor Status Classification of Advanced Breast Cancer. Cancer research · 10 Jun 2026 PMID 42268298
- DNA methylation biomarkers-based pan-cancer classifier: predictive modeling for cancer classification. Genome medicine · 19 May 2026 PMID 42152108
Others — Methylation and Metabolic Biomarkers (3)
- Integrated metabolomics and DNA methylation signatures and their association with flare remission in SLE. Lupus science & medicine · 12 Sept 2026 PMID 42731887
- Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma. Clinical cancer research : an official journal of the American Association for Cancer Research · 1 Jul 2026 PMID 42384765
- Mechanism of Jianpi Qinghua granule in ameliorating metabolic dysfunction-associated fatty liver disease by targeting the DNMT-urea cycle axis. Journal of ethnopharmacology · 10 May 2026 PMID 42107753
By study type
Observational studies and case reports (1)
- Age-varying DNA methylation patterns associated with blood pressure in mid-to-late adulthood. Clinical epigenetics · 7 May 2026 PMID 42092955
Human data, design not indexed (7)
- PSMA1, PSMA5, and PSMB2 serve as prognostic biomarkers and are correlated with tumor-infiltrating leukocytes in HCC. Epigenetics · 14 Sept 2026 PMID 42735232
- Integrated metabolomics and DNA methylation signatures and their association with flare remission in SLE. Lupus science & medicine · 12 Sept 2026 PMID 42731887
- DNA methylation informs adult cardiovascular risk and prevention for low birthweight individuals. Journal of global health · 14 Aug 2026 PMID 42596884
- DNA Methylation Signatures of Upper Aerodigestive Tract Squamous Cell Carcinoma and Sarcomatoid Squamous Cell Carcinoma Are Similar: A Potential Novel Diagnostic Tool for the Diagnosis of Sarcomatoid Squamous Cell Carcinoma. Head and neck pathology · 5 Aug 2026 PMID 42552441
- Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma. Clinical cancer research : an official journal of the American Association for Cancer Research · 1 Jul 2026 PMID 42384765
- Circulating Cell-Free DNA Methylation Profiling Enables Detection, Distinction, and Estrogen Receptor Status Classification of Advanced Breast Cancer. Cancer research · 10 Jun 2026 PMID 42268298
- DNA methylation biomarkers-based pan-cancer classifier: predictive modeling for cancer classification. Genome medicine · 19 May 2026 PMID 42152108
Preclinical: animal, cell and lab studies (2)
- Inheritance of the epigenetic signature and reduced intermuscular bone phenotype acquired via DNA methylation editing of the runx2 b promoter in zebrafish. Zoological research · 13 Sept 2026 PMID 42733042
- Mechanism of Jianpi Qinghua granule in ameliorating metabolic dysfunction-associated fatty liver disease by targeting the DNMT-urea cycle axis. Journal of ethnopharmacology · 10 May 2026 PMID 42107753
Unclassified: not yet indexed with MeSH (2)
- Epigenetics and Childhood Obesity: DNA Methylation Coordinates Environment and Gene Regulation. Endocrine reviews · 12 May 2026 PMID 42116681
- Causal relationship between epigenetic markers and type 2 diabetes in West African populations: a Mendelian randomisation analysis. Diabetologia · 24 Apr 2026 PMID 42032377
Written from 12 PubMed abstracts, each one listed by PMID above. Published: 2026-06-15. Last written: 2026-09-16 by GPT. Drafted by language models from published abstracts; not medical advice.