A Genetic Mutation May Be the Cause of Lupus

A Genetic Mutation May Be the Cause of Lupus

Lupus is an autoimmune disease characterized by the body’s immune system attacking its own tissues. The most common form of this disorder is systemic lupus erythematosus (SLE).

Lupus impacts various organs (mainly the skin, kidneys, lungs, and joints), causing inflammation and producing a wide variety of symptoms, including:

  • Long-term fatigue
  • Fever over 100°F
  • Joint and muscle pain (sometimes also with swelling)
  • Rash (especially the characteristic butterfly-shaped facial rash)
  • Sunlight sensitivity
  • Kidney issues, etc.

There’s still no cure for this autoimmune disorder, and the treatment currently boils down to preventing and minimizing the severity of the symptoms. Furthermore, the exact factors causing lupus still remain a mystery. This is what led a group of Australian researchers to investigate the potential triggers.

Their recent study suggests that a variant of the TLR7 gene could be one of the underlying causes of lupus. Namely, doctors identified a distinct mutation of the TLR7 gene in a girl with a severe case of lupus. And when introduced into mice, this mutated gene gave rise to lupus.

Though TLR7 may be only one of a number of factors that come into play, the study’s findings are significant, as they may pave the way to improving lupus treatment. However, there are several limitations to this study:

  • The gene variation was introduced into mice, not humans.
  • The gene mutation was identified in only one individual (other lupus patients should be examined to determine whether they express it, too), etc.

All in all, more research is necessary to confirm the researchers’ claims. Still, current findings are nothing short of groundbreaking and promising.

Photo by Sangharsh Lohakare on Unsplash

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