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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

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Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
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Epigenetic Regulation01:37

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Antigens Involved in Adaptive Immunity01:26

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An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
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Updated: Jun 18, 2025

Granulocyte-dependent Autoantibody-induced Skin Blistering
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Exposome: Epigenetics and autoimmune diseases.

Maria Giovanna Danieli1, Marco Casciaro2, Alberto Paladini3

  • 1SOS Immunologia delle Malattie Rare e dei Trapianti, AOU delle Marche & Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche, via Tronto 10/A, 60126 Torrette di Ancona, Italy; Postgraduate School of Allergy and Clinical Immunology, Università Politecnica delle Marche, via Tronto 10/A, 60126 Ancona, Italy.

Autoimmunity Reviews
|August 3, 2024
PubMed
Summary

Environmental exposures (the exposome) significantly impact autoimmune diseases. Epigenetics, like DNA methylation, links these exposures to disease development, offering potential diagnostic and therapeutic targets.

Keywords:
ANCA-associated vasculitis (AAV)DNA methylationEpigeneticsExposomeIdiopathic inflammatory myopathies (IIM)Non-coding RNAsRheumatoid arthritis (RA)Systemic lupus erythematosus (SLE)miRNA

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Area of Science:

  • Immunology
  • Environmental Health
  • Genetics

Background:

  • Systemic autoimmune diseases involve immune dysregulation against self-antigens, causing organ damage.
  • Genetic factors alone don't fully explain disease onset, indicating significant environmental influences.
  • The exposome encompasses diverse environmental factors (pollutants, diet, infections, stress) impacting health.

Purpose of the Study:

  • To review current evidence on epigenetic modifications in systemic autoimmune diseases.
  • To explore the link between the exposome and epigenetic changes in autoimmunity.
  • To highlight the potential of epigenetic alterations as biomarkers and therapeutic targets.

Main Methods:

  • Comprehensive literature review of recent studies on epigenetics and systemic autoimmune diseases.
  • Focus on key epigenetic mechanisms: DNA methylation, histone modifications, and non-coding RNAs.
  • Analysis of evidence related to systemic lupus erythematosus, idiopathic inflammatory myopathies, ANCA-associated vasculitis, and rheumatoid arthritis.

Main Results:

  • Epigenetic modifications are crucial mediators between exposome factors and autoimmune disease development.
  • Specific epigenetic changes are associated with pathogenesis in studied autoimmune diseases.
  • Epigenetic alterations show promise as diagnostic biomarkers and targets for novel therapies.

Conclusions:

  • Epigenetics provides a critical link between environmental exposures and systemic autoimmune diseases.
  • Understanding these epigenetic changes is vital for advancing diagnostics and developing targeted treatments.
  • Further research into exposome-epigenetics interactions can revolutionize autoimmune disease management.