Scientists are closing in on the genetic cause of lupus

WEDNESDAY, May 4, 2022 (HealthDay News) — There’s no cure for lupus yet, but new genetic research may at least point to new treatments for the chronic condition.

An international team of researchers has identified a genetic mutation linked to lupus. An autoimmune disease, lupus causes inflammation of organs and joints, fatigue, and a number of other problems. In severe cases, the symptoms can be debilitating and the complications can be life threatening.

Current treatments focus on suppressing the immune system to relieve symptoms.

“It has been a huge challenge to find effective treatments for lupus, and currently used immunosuppressants can have serious side effects and make patients more susceptible to infections. There has only been one new treatment approved by the [U.S. Food and Drug Administration] over the past 60 years or so,” said study co-author Carola Vinuesa, co-director of the China Australia Center for Customized Immunology (CACPI) and group leader at the Francis Crick Institute in England.

“This is the first time that a TLR7 mutation has been shown to cause lupus, providing clear evidence of how this disease can arise,” Vinuesa added in a press release from the institute.

In this study, scientists performed whole genome sequencing on the DNA of a young Spanish girl who was diagnosed with severe lupus at the age of 7. Such a severe case with an early onset of symptoms is rare and indicates a single genetic cause, they explained.

The researchers found that the girl had a point mutation in the TLR7 gene, which detects viral RNA. They then identified other cases of severe lupus where this gene was mutated.

To confirm that the mutation causes lupus, the scientists said they introduced it into mice. The rodents then developed the disease, according to the study.

“While there may only be a small number of people with lupus who have variants of TLR7 itself, we know that many patients show signs of hyperactivity in the TLR7 pathway. Confirming a causal link between the genetic mutation and the disease, we can start looking for more effective treatments,” said study co-author Nan Shen, co-director of CACPI.

The results were published April 27 in the journal Nature.

More information

To learn more about lupus, see the Lupus Foundation of America.

SOURCE: Francis Crick Institute, press release, April 27, 2022

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