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The scientists identified that Gabriela Piqueras has a mutation in the TLR7 gene, which activates a receptor called TLR7 in the membrane of her cells. Normally, it is used to recognize threatening viruses, but in the girl it reacts to her own DNA and unleashes an attack on her own organs.
The case of a Spanish girl served to help identify one of the genetic causes of lupus. This complex, chronic autoimmune disease can affect the joints, skin, brain, or kidneys. It causes widespread inflammation and tissue damage in the affected organs.
The scientists identified that Gabriela Piqueras has a mutation in the TLR7 gene, which activates a receptor called TLR7 in the membrane of her cells. Normally, it is used to recognize threatening viruses, but in the girl it reacts to her own DNA and unleashes an attack on her own organs.
Carola Vinuesa, lead researcher on the study, at the Francis Crick Institute, explains that “Gabriela has a mutation that causes the TLR7 receptor to recognize our own nucleic acids, our own DNA and RNA as if it were a microbe, so very small amounts of these nucleic acids become a trigger and the cells react abnormally.”
After discovering the suspicious mutation, Vinuesa’s team replicated it in a family of mice in his laboratory at the Australian National University in Canberra, and the rodents developed the disease.
The discovery has allowed experts to give Gabriela a more appropriate treatment, which means that she no longer suffers from involuntary spasms.
“Finding the mutation in Gabriela led us to prove that an increased activity of TLR7 is pathogenic in lupus, it is a cause of lupus. There will be many other patients who do not have these rare mutations, but may have increased TLR7 activity from other causes, either a combination of milder mutations in either the TLR7 gene or downstream genes, or due to environmental stimuli such as infections “, adds Vinuesa
The researchers explain that this discovery may be the key to developing more personalized treatments that deal with TLR7, since lupus is currently treated with immunosuppressants that reduce the force of action of the immune system to alleviate symptoms, however, this leaves patients exposed to more easily contract infections.
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