Autoimmune Diseases

  • Autoimmune Diseases (AD) occurs when the immune system mistakenly targets healthy cells and tissues in the body.
  • Examples of AD: Rheumatoid Arthritis, Systemic Lupus Erythematosus, Type 1 Diabetes, Multiple Sclerosis, Celiac Disease, Hashimoto’s Thyroiditis, Psoriasis, and Inflammatory Bowel Disease.
  • AD is more common in females, with a female-to-male ratio ranging from 10:1 to 1:1.
  • They can occur at any age but are more common during the reproductive years.
  • The presence of one AD in an individual increases the risk of developing another AD by 30-40%.
  • Symptoms: Fever, malaise, fatigue, arthralgia, deformity, disability, increased risk of comorbidities like cancer, stroke, mental illnesses, infections and risk of early mortality.

Types of Autoimmune Diseases

  • Organ-specific disease (involving only one organ) in which the immune response is directed toward antigens present in a single organ.
    • E.g. Autoimmune thyroiditis, multiple sclerosis, Diabetes Mellitus Type I, etc.
  • Systemic disease in which the immune system attacks self-antigens in several organs.
    • E.g. Systemic lupus erythematosus is characterised by inflammation of the skin, mucus membranes, joints, kidneys, brain, intestines, etc.

Autoimmune Diseases

  • Genetics: A family history of autoimmune diseases suggests a genetic predisposition, with specific genes increasing susceptibility to such disorders.
  • Environmental Factors:
    • Microorganisms (bacteria or viruses) may trigger changes that confuse the immune system.
    • Epigenetic factors, which interact with genes, can also play a role.
  • Hormonal Influence: Estrogen, a female sex hormone, has an impact on the immune system, and imbalances or inflammation in estrogen levels can heighten the risk of AD in women.
  • Medications: Some medications can induce changes in the body that confuse the immune system; for instance, side effects of statins, antibiotics, and blood pressure medications may play a role.

Linkage between X Chromosome and Autoimmune Diseases

  • It is one of the two sex chromosomes in humans (the other is the Y chromosome). 
    • There are 23 pairs of chromosomes in the human body. This includes 22 pairs of autosomal or somatic chromosomes that are common to both men and women and one chromosome that differs according to what gender a person is (sex chromosomes).
  • Each person usually has one pair of sex chromosomes in each cell. Females typically have two X chromosomes, while males typically have one X and one Y chromosome.
  • Men inherit the X chromosome they have from their mother and the Y chromosomefrom their father, while women inherit one X chromosome from the mother and the other from the father.
  • In women, the X chromosome represents almost 5% of the total DNA, and in men, who have only one X chromosome, it represents about 2.5% of the total DNA.
  • Females have two X chromosomes, while males have one X and one Y.
  • The second X chromosome in females contains both active and inactive genes.
  • The molecular coating of the X chromosome is a combination of RNA and proteins.
  • It is crucial to a process called X chromosome inactivation, which ensures that one set of X chromosomes in females remains active and functional while the other is muffled.
  • The chromosome is wrapped in long strands of RNA called XIST that attract proteins and tamp down the expression of the gene inside.
  • The ones that escape the X inactivation process are thought to be the cause of autoimmune diseases.
  • The XIST molecule, too, has been known to elicit inflammatory immune responses.


POSTED ON 10-05-2025 BY ADMIN
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