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An international team of researchers has found that DNA mutations in a gene that senses viral RNA are responsible for the autoimmune disease lupus, a discovery that paves the way for the development of new treatments
Lupus is a chronic autoimmune disease that causes inflammation of organs and joints, affects movement and skin, and causes fatigue
The disease, which affects around 50,000 people in the UK, has no cure, and current treatments are mainly immunosuppressants, which work by weakening the immune system to relieve symptoms
In research published today in the journal Nature, scientists have sequenced the DNA of a Spanish child named Gabriela who was diagnosed with severe lupus at the age of seven
In a genetic analysis conducted by the Australian National University's Centre for Personalized Immunology, the researchers found a single point mutation in the TLR7 gene
To confirm that this mutation causes lupus, the team used CRISPR gene-editing technology to introduce it into mice
Carola Vinuesa, senior author and principal investigator at the Australian Centre for Personalized Immunology, co-director of CACPI and now group leader at Crick, said: "Finding effective treatments for lupus is a huge challenge, with the immunosuppression currently being used Drugs can have serious side effects that make patients more susceptible to infections
"This is the first time a mutation in TLR7 has been found to cause lupus, providing clear evidence for a mode of pathogenesis in the disease
Professor Nan Shen, Co-Director of CACPI, added: "While it is likely that only a small proportion of lupus patients have variants in TLR7 themselves, we do know that many patients have signs of overactive TLR7 pathway
The mutation the researchers discovered makes the TLR7 protein more likely to bind to a nucleic acid component called guanosine and become more active
Interestingly, other studies have shown that mutations that cause TLR7 to become less active are associated with some severe cases of COVID-19 infection, highlighting the delicate balance of a healthy immune system
The study also helps explain why lupus is 10 times more common in women than men
Dr Carmen de Lucas Collantes, co-author of the study, said: "The discovery that TLR7 is responsible for lupus in this unusually severe case brings an end to a long journey of diagnosis and opens the door for Gabriela and others who may benefit from this discovery.
Gabriela, now a teenager and still in touch with the research team, said: "I hope this finding will give lupus patients hope that they are not alone in this battle
The researchers are now working with pharmaceutical companies to explore the development or repurposing of existing treatments targeting the TLR7 gene
"There are other systemic autoimmune diseases, such as rheumatoid arthritis and dermatomyositis, that fall into the same broad category as lupus," Collantes added.
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TLR7 may also play a role in these conditions
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Carola has established a new laboratory at the Francis Crick Institute to further understand the pathogenic mechanisms that occur downstream of key mutations in the TLR7 gene
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Courtesy of the Francis Crick Institute
