Investigators uncovered a genetic cause of lupus

Scientists detect a point mutation in the TLR7 gene in a Spanish language that diagnoses grave lupus in the age of 7, which can be confirmed by other cases.

Picture of patients with Lupus. Photo: Shutterstock.

A group of investigators has revealed that it is possible to identify mutations in the DNA of a gene that detects viral RNA as the cause of lupusa heck that after the camel hacked the desk of the new treatments, now published in Nature.

Carola Vinuesa, lead author, assures that “she has a great deal to do with effective treatment for lupus and the immunosuppressants that are currently being used may have secondary severity effects and affect patients more susceptible to infertility. The FDA has approved a new treatment in the 60-year-old ultimatum. “

“It is the first sign that a mutation in the TLR7 has been caused lupus“which is proportional to the clear evidence of one of the forms in which the surrogate is enforced”, added.

Scientists carry out the sequence of the complete genome of a Spanish character, Gabriela, and the one that is diagnostic lupus grave with only 7 years. A grave case with a template device of the syllables is less frequent and indicates a unique genetic cause.

In the analysis, carried out at the Center for Personalized Immunology of the National University of Australia, investigators detect a single point mutation in the TLR7 gene. Reference drawings from United States, China and Australia identify other cases of lupus grave in los that is gen también established mutado.

To confirm that the cause mutation lupus, the team uses the CRISPR genetic editing hermitage to induce ratones. These animals display the diaphragm and sample similar symbols, which demonstrates that the mutation in the TLR7 gene is the cause. Tanto the model of ratón as the mutation fueron bautizados as “kika”, but Gabriela, the young protagonist of this is undecided.

On the other hand, investigator Nan Shen said that, “it is possible to have only a small number of people with lupus tenga variants in the TLR7 propeller, since many patients present signs of sobriety in the TLR7 life. To confirm a causal relationship between the mutation of the gene and the term, we can try and search more efficiently “.

The mutation that the investigators identified identifies that the TLR7 protein is more than one component of guanosine nucleic acid and is more active. This increases the sensitivity of the immune cell, although it is more probable that the identifier is incorrectly identified as being extracted or added and mounted against it.

Curiously, other studies have demonstrated that the mutations that haul the TLR7 want to be activated are associated with severe cases of COVID-19, as manifested by the delicate balance of a healthy immune system.

The work should be adjusted to explain what the lupus is one of the 10 most frequented months in men. As TLR7 is located on the X chromosome, it has only two copies of the gene, so that the men only have one.

Normally, one of the X chromosomes is inactive during this process, but the chromosome sequence is silenced from the second copy complete. This means that you can work with a mutation to find the functional parts.

Carmen de Lucas Collantes, co-author of the studio, explained that “the identification of TLR7 as the cause of lupus in this case insufficiently wells are found in a diagnostic odyssey and the expectation of Gabriela and other patients with lupus puedan beneficiarse de este descubrimiento “.

Gabriela is in contact with the investigation team and is now a teenager. “It’s not easy for people to conceive lupus and the haga sentir that you are not alone in the fight against it is invalid -commenta-. Do not investigate continuously and accurately in a specific treatment that can benefit from all the guerreres of lupus that sufren is enfermedad. “

Investigators are now working with pharmaceutical companies to explore the development or readability of existing treatments directed at the TLR7 gene. In addition, the selection of this gene can be adjusted to treat patients with related conditions.

Carola says that “there are other systemic autoimmune diseases, such as rheumatoid arthritis and dermatomyositis, which occur in the general family population that lupus. The TLR7 can be used to print a paper in these fields “.

I am now starting a new lab at the Francis Crick Institute to find out the mechanisms behind the drugs that produce the key to mutations, such as being found in the TLR7 gene.

Where consulted here.