April 29, 2022 – Scientists who studied a young lupus patient found a gene mutation that may lead to the creation of better, more detailed treatments for the incurable autoimmune disease.

Scientists at the Centre for Personalised Immunology at the Australian National University (CPI) studied the DNA of a Spanish girl named Gabriela, who was diagnosed with severe lupus when she was 7 years old, ScienceDaily reported.

Finding a case in such a young person indicated a single genetic cause.

The scientists found a mutation in the TLR7 gene, which normally fights off viruses but when too activated attacks a person’s immune system. Lupus causes inflammation in organs and joints, affects the skin, and causes fatigue.

Through the China-Australia Centre of Personalised Immunology (CACPI), the research team found other cases of lupus in which this gene was also mutated, Science Daily reported.

To confirm the finding, the team then used CRISPR gene editing to introduce the gene into mice. The mice went on to develop the disease and similar symptoms. The study was published Wednesday in Nature.

"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 FDA in about the last 60 years,” said Carola Vinuesa, MD, senior author of the study, principal investigator at the CPI, and co-director of CACPI.

"This is the first time a TLR7 mutation has been shown to cause lupus, providing clear evidence of one way this disease can arise."

The researchers are working with drug companies to find new treatments or repurpose existing ones that target the TLR7 gene, according to ScienceDaily.

“By confirming a causal link between the gene mutation and the disease, we can start to search for more effective treatments,” Nan Shen, PhD, co-director of CACPI, told Science Daily.

Gabriela, now a teenager, hopes the research will encourage others with lupus.

"I hope this finding will give hope to people with lupus and make them feel they are not alone in fighting this battle,” she said. “Hopefully the research can continue and end up in a specific treatment that can benefit so many lupus warriors who suffer from this disease."

Show Sources

ScienceDaily: “Scientists find a genetic cause of lupus.”

Nature: “TLR7 gain-of-function genetic variation causes human lupus.”

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