Scientists found gene mutation which causes autoimmune disease lupus

Thanks to the genome of a child with a rare inherited form of the disease, scientists found an explanation for severe disease. On Wednesday, a study just published in the journal Nature said Scientists have found a genetic cause for lupus.


Lupus is a disease that causes the body’s immune system to attack itself, which has been called "undead cancer" because it leaves patients in endless misery. Lupus affects 1.5 million Americans, and at least five million people worldwide, according to the Lupus Foundation of America. Usually, Lupus is thought to involve both genetics along with environmental triggers. But the new study provided a different finding.


Scientists carried out whole genome sequencing on the DNA of a Spanish girl called Gabriela Piqueras, who was diagnosed with severe lupus when she was just seven. Sunlight could damage her body, her organs, as well as her early school life.


"Since I was little, I wanted to be like my sister and she did things like playing out that I cannot do.” Gabriela said, “And I got bullied by some kids because I was like this and I think that that made me a better person and more strong since I had to deal with it and just don't pay attention to them.”


But surprisingly, Gabriela’s parents and siblings don’t have lupus, instead, Scientists found a gene mutation in Gabriela’s body. "We found a mutation that looked very suspicious because it was present only in Gabriela and not in her parents we call these mutations de novo, in a gene that made sense biologically but had never shown to cause lupus, even though there had been reports that this gene appeared to be over-activated in lupus patients, but we did not have proof of causality.” Carola Vinuesa, senior author and researcher at Francis Crick Institute said. To verify their hypothesis, they took the information about the mutation and edited the gene in mice. As expected, mice presented slight lupus symptoms.


Experts identified a gene called TLR7 that helps fight off viruses. Normally, TLR7 spots RNA viruses and cells carrying the gene produce interferon to stem virus from reproducing. But when the mutation over activates immune cells, they incorrectly believe they're being attacked by a microbe and overproduce interferon, leading to an immune attack on normal cells.


Although the TLR7 mutation was found in very severe cases of lupus, Vinuesa and other scientists believe the finding could help to transform the treatment of lupus for a much wider group.


"Finding a mutation in Gabriella has led us to proof that increase activity of TLR7 is pathogenic in lupus is a cause of lupus. Now there will be many other patients that might not have these rare mutations but might still have overactivity of TLR7 for other causes, either a combination of milder mutations, either in TLR7 or the downstream genes, or due to environmental stimuli such as infections." Vinuesa said. Her team thinks blocking TLR7’s pathway with drugs, either targeting the receptor or downstream signals, “is a reasonable therapeutic strategy.”


SMG News、 ShanghaiEye.com Ziwen Lyu, Meixing Ren Contributed this article
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