Skip to content

Evidence brief · hallmark

Epigenetic alterations

Synthesized from 10 indexed sources · 2026-10-29 MST

Based on the provided literature, epigenetic alterations—particularly involving DNA methylation patterns—play a fundamental role in regulating gene expression and defining cellular identity [7]. Recent advancements in genomic resources, such as the NIH Roadmap Epigenomics Consortium's generation of 111 reference human epigenomes and analytical platforms like cBioPortal, have enabled the multidimensional exploration of these epigenetic events in both normal human tissues and pathological states like cancer [1, 6].

A major consensus in the field is that specific DNA methylation states can be harnessed to accurately estimate chronological and biological age across a broad spectrum of human tissues and cell types [8]. Furthermore, integrated analyses—such as those conducted on high-grade serous ovarian carcinomas—regularly incorporate promoter methylation alongside mRNA expression, microRNA expression, and DNA copy number variations to catalogue molecular aberrations [3].

Despite these descriptive frameworks, key open questions remain regarding the exact mechanisms and functional consequences of epigenetic memory [7], as well as whether DNA methylation age predictors are universally meaningful measures across all pathological contexts [8]. The strength of evidence supporting epigenetic profiling is high regarding reference maps [6] and multi-tissue age prediction models [8], though the field continues to evolve through integrative genomics linking epigenetic changes to disease states [1, 3].

Sources

  1. [1] Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal
  2. [2] Modernity and Self-Identity: Self and Society in the Late Modern Age
  3. [3] Integrated genomic analyses of ovarian carcinoma
  4. [4] Guidelines for the Early Management of Patients With Acute Ischemic Stroke
  5. [5] Global, regional, and national age–sex specific all-cause and cause-specific mortality for 240 causes of death, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013
  6. [6] Integrative analysis of 111 reference human epigenomes
  7. [7] DNA methylation patterns and epigenetic memory
  8. [8] DNA methylation age of human tissues and cell types
  9. [9] A chronological framework for atherosclerosis: from environmental pressure to clinical disease, with vascular aging as a cross-cutting dimension
  10. [10] Loss of microbial diversity from human–microbe coevolution: immune, epigenetic, and enteric nervous system mechanisms linking dysbiosis to neuropsychiatric and neurodegenerative diseases