a gene possibly responsible for its occurrence has been identified


  • Lupus occurs in 90% of cases in women and most commonly begins between puberty and menopause, with a peak incidence between the ages of 30 and 39.
  • The “TLR7” gene is located on the X chromosome. Females have two X chromosomes and thus two copies of the “TLR7” gene.
  • “This means women with an overactive TLR7 gene may have two functioning copies, which can double the risk,” the researchers said.

41 out of 100,000 people. This is the number of French people with systemic lupus erythematosus (SLE). In this multi-organ disease, the immune system mistakenly attacks healthy cells and tissues in the body in the absence of antigens. The causes of this immune dysregulation are unknown for the time being. However, certain elements have been identified that favor this chronic autoimmune disease. According to the health insurance company, several genes are involved in the development of lupus.

Recently, researchers at the Australian National University in Canberra identified a specific gene that may be responsible for causing this condition. “Although circumstantial evidence suggests that increased toll-like receptor 7 (TLR7) signaling is a mechanism of systemic autoimmune disease, there is no evidence for the existence of genetic variants of TLR7 that cause lupus.”they wrote in a paper published in the journal Nature April 27th.

A genetic cause of lupus was discovered thanks to a little girl

Scientists discovered that this gene, named “TLR7”, could be involved in the occurrence of this autoimmune disease, thanks to a young Spanish woman, Gabriela, who found out at the age of seven that she had lupus. A mutation of the “TLR7” gene was identified in this patient. As a reminder, this gene helps the immune system protect itself against viral infections, but in its mutated form it can become aggressive, causing the immune system to attack healthy cells.

Using a gene editing tool, the team introduced the human-derived mutation into mice to see if the pathology developed in rodents. “Mice carrying the mutated TLR7 gene developed a condition that mimics a severe autoimmune disease in human patients, providing evidence that the TLR7 mutation causes lupus.” Grant J. Brown, author of the study, said in a statement.

“The possibility of developing new drugs that target TLR7”

“This is the first time scientists have shown that a genetic variation in the TLR7 gene is a driver for autoimmune diseases,” said Vicki Athanasopoulos, co-author of the paper. The authors added that this finding raises concerns “The possibility of developing new drugs that target TLR7, which could revolutionize the treatment of lupus.”They are currently working with pharmaceutical companies to develop new treatments or modify existing drugs to target the “TLR7” gene.

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