Discovery of a new gene linked to lupus could help fight the disease

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A team of Australian scientists has discovered a gene responsible for lupus that could hold the key to creating new treatments for the disease which affects at least five million people worldwide. The discovery was published this Wednesday in the scientific journal nature.

Disease causes an immune system attack on the body itself and has no known cure. Scientists are now closer to this goal thanks to gene found in a Spanish girl in 2016.

The new study focused on TLR7 gene, responsible for helping the body fight viruses, and which, in excessive functioning, activates the humanitarian system on the organs and tissues of the body. Although it is not the only gene responsible for lupus, identifying its protein can help people who suffer from this autoimmune disease.

The most common symptoms associated with lupus are skin irritations, joint pain, fatigue, blood clots, kidney failure, heart and psychiatric disorders. It is believed that the disease has a component of genetic transmission from parents to children, but is also caused, in some cases, by the context that surrounds the individual.

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In 2016, Carola Vinuesa, a scientist at the Francis Crick Institute, then based at the Australian National University, found a seven-year-old Spanish girl, Gabriela, who was showing symptoms of lupus, a rare disease in children. Genetic sequencing of Gabriela revealed a mutation in the TLR7 gene, which had never been linked to the disease, although the researchers later discovered this change in other lupus patients.

The purpose of this gene’s protein is to detect RNA viruses – like the coronavirus, which is why people with a lower percentage of the TLR7 gene have developed greater complications when infected with Covid-19. The receptor for this gene, when activated, it causes cells to block virus replication and activate antibody production in B cells.

Gabriela’s TLR7 gene mutation, however, makes the protein receptor more sensitive, leading to an immune attack against normal cells and not just those infected with RNA viruses. The new discovery thus shows that blocking the TLR7 protein could be the next step towards treatments for the disease.

Gabriela continues to take a cocktail of immunosuppressants to control her illness, which has resulted in a stop your growth.

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