Lupus: Discovery of New Gene Variant

Written by Ker Wei
Posted on May 26, 2022

Our immune system is the protective mother of the cells that stop bad or unhealthy cells from attacking our cells. But, when a person develops an autoimmune disorder, the immune system recognizes normal healthy cells as bad cells and starts attacking them. A common autoimmune disorder is Lupus.

Lupus is an autoimmune disorder whereby the immune system mistakenly attacks the healthy cells. Lupus can have symptoms ranging from mild to severe. People with lupus experience periods of remission followed by periods where their symptoms worsen. The most common type of lupus is systemic lupus erythematosus (SLE).

Lupus' symptom, butterfly rash


Lupus causes inflammation and a wide range of symptoms targeting different organs. The most common symptoms include:

  1. Pain in joints and muscles (with or without swelling)
  2. Kidney problems
  3. Chest pain due to the inflammation of the lining of the lungs
  4. Anemia
  5. Blood clot
  6. Rashes (butterfly-shaped rashes)
  7. Fever
  8. Extreme fatigue
Common Lupus Symptoms

TLR7 gene

To date, there have been no known causes of how lupus was developed in an individual but believed that genetics may contribute to the development of lupus. However, in a recent study, a distinct gene variant was detected in a girl that was diagnosed with lupus. It is the variant of the toll-like receptor 7 (TLR7) gene. When this gene is introduced into mice, these rodents develop lupus. Hence, the mutation of the TLR7 gene may have a role in lupus development (specifically SLE). The TLR7 gene serves as a sensor of viral RNA by detecting a compound called guanosine. Researchers thought that the altered gene attacks healthy human cells instead of the virus. The increase in TLR7 signaling enhances guanosine which is sufficient to cause lupus.

Activation on TLR7 gene

However, the discovery of the TLR7 gene only showed positive results in mice as the TLR7 gene discovered in the girl was a de novo (new) mutation. Hence, more research is needed to translate the results to humans. Nevertheless, scientists are optimistic about the finding of this gene as the discovery of the TLR7 gene that correlates with lupus has opened up more opportunities for new treatments for the patients. The increased TLR7 signaling in a large fraction of SLE patients suggested that the TLR7 gene may be the main input of human SLE. Hence, treatments and therapies for inhibiting TLR7 are believed to be effective to help SLE patients.


Lupus awareness month occurs every May to raise funds for the continuity of research and spread awareness to the community about lupus. It is the month to pick out purple clothing to wear in supporting Lupus awareness!

Further Reading: A Walk-Through Autoimmune Disorder

Lupus Awareness Ribbon
Source: Canva

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