Researchers have identified the genetic cause of chronic autoimmune disease

An international team of scientists has identified the cause of lupus autoimmune disease in a DNA mutation of a gene that senses viral RNA – leading to the development of new treatments.

There is currently no cure for chronic autoimmune disease, which causes inflammation in the organs and joints and affects movement and skin – sometimes with debilitating symptoms and complications that can lead to death.

Lupus affects nearly a quarter of a million people in the United States and the United Kingdom, and current treatments work mainly by weakening the immune system, which lowers the immune system.

However, scientists recently reported that they performed a complete genomic sequencing of the DNA of Gabriela, a Spaniard who was diagnosed with severe lupus at the age of seven. Such a severe case of early onset of symptoms is rare and indicates a genetic cause.

Their analysis was published on April 27 nature, the researchers reported finding a point mutation in the TLR7 gene. With referrals from the United States and Shanghai Renji Hospital in China, they identified other cases of severe lupus with this gene mutation.

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To confirm that the mutation causes lupus, the team used the CRISPR gene correction to introduce it into mice. These mice developed the disease, showed similar symptoms, and provided evidence that the TLR7 mutation was the cause. Gabriela, a young girl being treated at the Australian National University’s Center for Personal Immunology, named the mouse model and mutation “kika.”

Carola Vinuesa, senior author, lead researcher and lead of the new study, said: “Finding effective treatments for lupus has been a major challenge and the immune suppressors currently in use can have serious side effects and make patients more susceptible to infection.” The Autoimmune Laboratory at the Francis Creek Institute, which will continue the study. “There has been only one new treatment approved by the FDA in the last 60 years.”

“This is the first time that a TLR7 mutation has been shown to cause lupus, and this is clear evidence of a way in which the disease can occur.”

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There may be a small number of people with lupus who have variants of this TLR7 itself, but many patients have signs of hyperactivity in the TLR7 pathway. By confirming the causal link between gene mutations and disease, researchers are beginning to develop more effective treatments.

The mutation found that the TLR7 protein binds easily to a nucleic acid component called guanosine, increasing its activity. This increases the sensitivity of the immune cell, misdiagnoses healthy tissue as foreign or damaged, and increases the likelihood of attacking it.

Interestingly, other studies have shown that mutations that reduce TLR7 activity are associated with some cases of severe COVID-19 infection, highlighting the “delicate balance of a healthy immune system.”

It is 10 times more likely in women

This study also helps explain why lupus is 10 times more common in women than in men.

Because TLR7 sits on the X chromosome, women have two copies of the gene, while men have one. Normally, one of the X chromosomes is inactive in women, but the second copy in this section of the chromosome is often incomplete. This means that females with mutations in this gene may have two working copies.

“Determining TLR7 as the cause of lupus in this unusually severe condition has completed a diagnostic odyssey and gives hope for targeted therapy that could benefit from this discovery for Gabriela and other patients with lupus,” says Dr. Carmen de Lucas Collantes, one of the authors of the study.

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Researchers are now working with pharmaceutical companies to develop or re-target treatments that target the TLR7 gene. And they hope that this gene can also help patients with diseases such as targeted rheumatoid arthritis and dermatomyositis, who belong to a broad family like lupus.

Gabriela, a teenager who is now in contact with a team of researchers, hopes that the discovery will make people with lupus feel more alone in battle. “I hope that the study will continue and end with a specific treatment that will benefit many lupus soldiers suffering from this disease.”

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