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Autoimmune Disorders01:29

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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.
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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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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
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Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
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Coherent somatic mutation in autoimmune disease.

Kenneth Andrew Ross1

  • 1Department of Computer Science, Columbia University, New York, New York, United States of America.

Plos One
|July 3, 2014
PubMed
Summary
This summary is machine-generated.

Somatic mutations in simple tandem repeat (STR) sequences within genes may trigger autoimmune diseases. This study links long STRs in primary autoantigens to significant autoimmune disease associations.

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Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Autoimmune disease pathogenesis and targets remain incompletely understood.
  • Somatic mutations at duplicated loci are implicated in disease.
  • Simple tandem repeat (STR) sequences are highly mutable and observed under inflammation.

Purpose of the Study:

  • Investigate the role of mutable STRs in protein-coding genes in autoimmunity.
  • Identify potential primary autoantigens associated with STRs.
  • Explore the link between STRs and autoimmune disease initiation.

Main Methods:

  • Evaluated protein-coding genes containing STRs with mutability markers.
  • Analyzed primary autoantigens for associated STR characteristics.
  • Assessed the statistical significance of associations between long STRs and autoimmune diseases.

Main Results:

  • Three primary autoantigens (TPO, PTPRN2, FLG) contain exceptionally long STRs.
  • A highly significant association (p<3.0x10(-7)) exists between primary autoantigens and long STRs.
  • Long STRs are present in 20 genes linked to 16 autoimmune diseases and atherosclerosis, with TTC34 gene STR linked to lupus.

Conclusions:

  • Supports the hypothesis that autoimmune diseases are initiated by immune responses to somatically mutating proteins.
  • Suggests coherent somatic mutations in immune cells may cause other autoimmune diseases.
  • Proposes the coherent somatic mutation hypothesis as a unifying explanation for autoimmune disease initiation.