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Lupus mutation may unveil targeted drugs for patient subset: Study

According to the researchers, one of the key questions this finding has prompted is how many patients’ disease results from TLR7 activity. Reportedly, drugs that target TLR7 already exist for other indications, and clinical trials have already begun to see if these TLR7 inhibitors benefit lupus patients.

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Ziphus, a biopharmaceutical company, specialises in developing self-amplifying RNA medicinal products for vaccine and therapeutic applications. (File)

A team of scientists has found that a receptor long suspected to be linked to lupus is responsible for the autoimmune disease for at least some subset of patients. The scientists have discovered the important role of toll-like receptor 7 (TLR7) because of a rare mutation in a pediatric patient with systemic lupus erythematosus (SLE) who had a particularly severe presentation. The findings of the study were published in the Nature journal recently.

“Sometimes it’s valuable to find these very severe cases where there is one mutation that has a strong effect because if we understand how those mutations work, the lessons we learn can generally tell us about disease mechanisms,” Senior author Carola G. Vinuesa, MD, PhD, of the Centre for Personalised Immunology at Australian National University in Canberra and The Francis Crick Institute in London, England said.

Vinuesa also said that it’s quite difficult to find one mutation that can alone cause the entire disease. However, Vinuesa also said that the revelation about how the disease develops may lead to more effective targeted therapies than the immune suppressants most often used to treat lupus currently.

Earlier, research had shown an association between TLR7 and lupus, however, this new study is the first to provide definitive proof that a TLR7 mutation by itself can directly cause human lupus. The team of scientists after discovering the variant in the patient used CRISPR to edit the genome of a mouse model and introduce the same mutation the patient had.

According to the researchers, one of the key questions this finding has prompted is how many patients’ disease results from TLR7 activity. Reportedly, drugs that target TLR7 already exist for other indications, and clinical trials have already begun to see if these TLR7 inhibitors benefit lupus patients.

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