The DNA of a Spanish girl allows to detect "the genetic cause" of lupus

Carola Vinuesa, a researcher at the Center for Personalized Immunology in Australia.

The finding, led by a Spanish researcher, opens the door to a better understanding of the disease and the development of possible therapies

The DNA of a Spanish girl has made it possible to detect one of the genetic causes of lupus, a disease of the immune system that damages the epidermis and attacks different organs. The finding is the result of international work co-directed from the Center for Personalized Immunology in Australia by the Spanish-born researcher Carola Vinuesa. The team has identified a series of mutations in the DNA of a gene that detects viral RNA and that, as has been seen, are directly related to the development of the pathology.

The renowned international magazine 'Nature' publishes today the details of the research, carried out from the complete genome sequencing of the DNA of a Spanish girl, Gabriela, who was diagnosed with the disease when she was only 7 years old. The very early appearance of symptoms is a circumstance that is very rare, but it made the researchers suspect the existence of "a single genetic cause."

40,000 Spaniards affected

The disease is called lupus because it manifests itself with skin lesions that resemble the bite of a wolf. It is not a common pathology, but it is widespread enough to be considered a major health problem. The defenses of the human body stop working in an orderly way and attack any organ that it does not recognize as its own, including the joints. In addition to the spots on the skin, its hallmark and actually the smallest part of the health problem, lupus also manifests itself with fatigue. Symptoms and complications can be very debilitating and lead to death in the most severe cases.

The disease became famous throughout the world for the series 'House', starring a curmudgeonly doctor who was actually an eminence in detecting the disease. Nearly 40,000 Spaniards suffer from lupus in its different forms, and most of them are young women. The step taken by science "paves the way for the development of new treatments", according to those responsible for the investigation.

Genetic analysis, conducted in Australia, found a single point mutation in the TLR7 gene. through United States referrals. The Personalized Immunology Centers in China and Australia subsequently identified other cases of severe lupus involving this same gene at Renji Hospital in Sanghai.

the ultimate test

The team then used the CRISPR gene-editing system to introduce the mutation suspected of causing lupus into mice. The mice developed the disease and showed similar symptoms to humans. It was the last piece of evidence needed to link lupus to the TLR7 mutation. The mouse model used and the mutation have been baptized with the name of Kika in homage to the Spanish girl on whom the research revolved.

The research published by 'Nature' is peer-reviewed. This is a form of work typical of the scientific method, which means that another independent research team has repeated the work under identical circumstances and obtained the same results.