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Scientists Discover Genetic Cause of Lupus, a Chronic Autoimmune Disease

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An international team of researchers has identified a cause of the autoimmune disease lupus within the DNA mutations of a gene that senses viral RNA—findings that will lead to the development of new treatments.

Currently there is no cure for the chronic autoimmune disease which causes inflammation in organs and joints and affects movement and the skin—sometimes with debilitating symptoms and complications that can be fatal.

Lupus affects around a quarter-million people in the US and UK, and current treatments are predominantly immune-suppressors which work by dialing down the immune system to alleviate symptoms.

But scientists recently reported carrying 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.

In their analysis published April 27 in Nature, the researchers report finding a single point mutation in the TLR7 gene. Via referrals from the US and the Shanghai Renji Hospital in China, they identified other cases of severe lupus where this gene was also mutated.

To confirm that the mutation causes lupus, the team used CRISPR gene-editing to introduce it into mice. These mice went on to develop the disease and showed similar symptoms, providing evidence that the TLR7 mutation was the cause. The mouse model and the mutation were both named ‘kika’ by Gabriela, the young girl being treated at the Centre for Personalised Immunology at the Australian National University.

“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,” said Carola Vinuesa, senior author, principal investigator, and leader of the new Autoimmunity Laboratory at the Francis Crick Institute where she will continue the research. “There has only been a single new treatment approved by the FDA 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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