An international team of researchers has identified DNA mutations in a gene that senses viral RNA, as a cause of the autoimmune disease lupus, with the finding paving the way for the development of new treatments.
This is the first time researchers have identified the TLR7 gene, in its mutated form, causes lupus. The gene TLR7 is programmed to help the immune system guard against viral infections, but in its mutated form it can become aggressive and cause the immune system to attack healthy cells.
In their study, published in Nature today, the scientists carried out whole genome sequencing on the DNA of a Spanish child named Gabriela, who was diagnosed with severe lupus when she was 7 years old. Such a severe case with early onset of symptoms is rare and indicates a single genetic cause.
Carola Vinuesa, senior author and group leader at the Crick Institute in London, said: “It has been a huge challenge to find effective treatments for lupus, and the immune-suppressors currently being used can have serious side-effects and leave patients more susceptible to infection.
“There has only been a single new treatment approved by the (US Food and Drug Administration) in about the last 60 years.
“This is the first time a TLR7 mutation has been shown to cause lupus, providing clear evidence of one way this disease can arise.”
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