A group of researchers has identified a mutation in a gene as the cause of lupus. East finding means that New treatments could be developed for this autoimmune disease.
N+ recommends you: What is lupus and how many people have it?
The lupus is an autoimmune disease, which means that the immune system, which is designed to protect the body from infection and injury, creates antibodies that attack healthy tissue.
The above causes inflammation in organs and joints, affects movement and skin, and causes fatigue. In severe cases, Symptoms can be debilitating and complications can be fatal.
Nope there is a cure for the diseasewhich affects, according to the UNAM, 20 of every 100 thousand Mexicans. The treatments current they are predominantly immunosuppressants that act by shutting down the immune system to relieve symptoms.
However, this could change after a group of scientists carried out whole genome sequencing on the DNA of a girl Spanish called Gabriela, who was diagnosed with severe lupus when she was 7 years old. A such a serious case with early onset of symptoms is rare and indicates a single genetic cause.
In his genetic analysis, performed at the Center for Personalized Immunology at the Australian National Universitythe researchers found a point mutation in the TLR7 gene.
After an investigation and tracing in other countries, identified other cases of severe lupus in which this gene was also mutated.
To confirm that the mutation causes lupus, the team used CRISPR gene editing to introduce it into mice. these mice developed the disease and showed similar symptomsproviding evidence that the cause was the TLR7 mutation.
The mouse model and mutation were named ‘Kika’ after Gabriela, the girl – now a teenager – who was central to this discovery.
Carola Vinuesa, study lead author published in Nature and Principal Investigator at the Center for Personalized Immunology in Australia, explained:
“It has been a great challenge to find effective treatments for lupus and the immune system. Suppressants currently in use can have serious side effects and leave patients more susceptible to infection. There has only been a single new FDA-approved treatment in roughly the last 60 years.
“This is the first time that a TLR7 mutation has been shown to cause lupus, providing clear evidence for one of the ways this disease can arise.”
The mutation the researchers identified makes the TLR7 protein I know more readily binds to a nucleic acid component called guanosine and become more active. This increases the sensitivity of the immune cell, which makes it more likely incorrectly identify healthy tissue as foreign or damaged and thereby attack it.
The study may also help explain why lupus is about 10 times more common in women than in men. What TLR7 is located on the X chromosomethe women have two copies of the gene while men have one.
As usual, in females, one of the X chromosomes is inactive, but in this section of the chromosome, the silencing of the second copy is usually incomplete. This means that the Women with a mutation in this gene can have two working copies.
Dr. Carmen de Lucas Collantes, co-author of this study, added:
“The identification of TLR7 as the cause of lupus in this unusually severe case ended a diagnostic odyssey and provides hope for more targeted therapies for Gabriela and other lupus patients likely to benefit from this discovery.”
The researchers are now working with pharmaceutical companies to explore the development wave reuse of existing treatmentsThat specifically target the TLR7 gene. And they hope that targeting this gene could also help patients with related conditions.