El Pais reported that previous studies had linked the gene called TLR7 to lupus erythematosus, but the new study found a previously unknown genetic mutation in a Spanish teenager who was diagnosed with lupus erythematosus as a child.
"We have shown for the first time how rare genetic variants that occur in less than one percent of the population lead to lupus erythematosus and how these variants drive the disease in the body," Simon Jiang, a researcher at the center for personalized immunology at the Australian National University and author of the study, said in a statement
Simon said the findings could help researchers develop targeted therapies for lupus erythematosus -- and not just for patients with this exact rare mutation.
Lupus erythematosus is an autoimmune disease. The body's immune system begins to attack its healthy tissues and organs, causing inflammation, fatigue, joint pain and rash.
The disease is notoriously difficult to diagnose. It can be caused in people with this tendency in a variety of ways, including viral infection, certain drugs and sunlight. At present, the focus of treatment is to reduce the symptoms of lupus erythematosus; There is no cure. But the ultimate cause of lupus erythematosus has always been a mystery.
When Gabriela piqueras was 5 years old, the smallest collision bruised her - since then, her life has been receiving medical care.
Piqueras, now 16, told El Pais: "between appointments, because I have 1000 appointments a day, I go to El Retiro with my father or mother to see peacocks." it's a good way to keep your head clear. "
The Hudson Institute of medicine explained that it is unusual to develop severe lupus erythematosus at such a young age, suggesting to researchers that it may be caused by a single mutation.
It was in the genome of piqueras that researchers found a single point mutation in the TLR7 gene. To test whether the mutation was really the cause of her lupus erythematosus, the researchers used CRISPR to recreate the same mutation in mice. These mice developed lupus erythematosus.
Corresponding author Carola Garc í a de vinuesa reported: "it is known that this receptor appears to be activated in patients with lupus erythematosus, but no one knows whether it is a cause, a result or a side effect of inflammation." "Now we can prove that this is the reason."
Michael gantier, an expert at the Hudson Institute of medicine, explained that the mutation increases the sensitivity of the immune system to guanine, one of the components of DNA and RNA. This causes the infection sensor to be turned on, even if there is no viral RNA, which is what it is designed to look for.
Misled immune cells are "confused" by their targets and start attacking healthy tissues.
If the researchers are right, it may also solve another troubling problem of lupus erythematosus. The incidence rate of the disease is 10 times higher in women than in men, and TLR7 is on the X chromosome -- doubling the likelihood of possible mutations.
"Lupus erythematosus is a difficult disease to diagnose," Simon said. "You can have many diseases that look like lupus erythematosus and smell like lupus erythematosus, but we can't officially call it lupus erythematosus."
Simon's hope is that sequencing the genome of suspected lupus patients to find mutations in the gene may lead to a faster and clearer diagnosis. It can also provide a target for TLR7 treatment.
The researchers hope that this finding may lead to better diagnostic tools and treatment of lupus erythematosus and other autoimmune diseases.
Simon said that since the gene is also related to other autoimmune diseases, it may help researchers better understand and treat diseases such as rheumatoid arthritis and type 1 diabetes.
During a particularly long hospital stay, a friend of piqeuras's father gave her a Plush Elephant Kika. The plush toy she still owns will now continue to exist in lupus research, because the mutation itself and the mice that mimic it were named after her Plush Elephant friend by piqeuras.
"I hope that finding the genetic cause of lupus erythematosus will bring hope to patients with lupus erythematosus and make them feel that they are not alone in this battle." Piqeuras told the Hudson Institute.