According to a recent study, a genetic cause of lupus, an autoimmune affecting disease, has been discovered at least 5 million people around the worldand this cause, identified by an international team of researchers, seems to be linked to one mutation in the TLR7 geneand it would be one of the causes of the conditionwith results published yesterday in the magazine Nature.
“This is the first time that scientists have shown that a genetic variation of the TLR7 gene is an engine of autoimmune diseases. This raises the exciting possibility of developing new drugs targeting TLR7, potentially revolutionizing treatments for lupus. “
he has declared the senior author Dr Vicki Athanasopoulos in a statement.
Lupus is a chronic conditionoften debilitating and sometimes fatal, characterized by inflammation of the organs and joints, physical impairment and fatigue, it can also be associated with hair loss, cognitive problems, skin rashes and joint pain, in addition to a number of other symptoms, with the overwhelming majority – 90 percent – of those affected who are women.
There is currently no cure and treatment options are limited. Immunosuppressants are a favorite therapy, but, as the name suggests, they work by suppressing the immune system, leaving patients vulnerable to infections and lowering their quality of life. Only one new treatment has been approved by the Food and Drug Administration (FDA) in the past 60 years, according to the article’s senior author, Professor Carola Vinuesa.
Better treatment options are needed, so any insight into the genetic basis of the condition, which could help improve them, is welcome. Hence the enthusiasm surrounding the new studio.
“This work identifies a more specific target for the treatment of lupus, which should be more effective and therefore cause less severe side effects”
Vinuesa said.
That target is the TLR7 gene, which codes for a protein involved in protection against viral infections. However, once mutated, it activates more easily and binds to DNA more easily, causing the immune system to attack healthy cells.
The discovery of the problem in the TLR7 gene
The mutation was first discovered in a young Spanish girl who was diagnosed with severe lupus at the age of 7. The team behind the study then identified a single-point mutation in the TLR7 gene and looked for other cases of severe lupus with the same mutation. To confirm, they used CRISPR gene editing to introduce the human mutation into mice, which developed severe autoimmune disease.
“Our work demonstrates that the gain function of TLR7 causes lupus, so targeting this path is a reasonable therapeutic strategy.”
Vinuesa said, who later added:
“The vast majority of patients will not have this rare and severe mutation, but may have more common variants in the TLR7 gene or have the TLR7 gene activated due to environmental triggers (eg viral infections – viral RNA). So, even in patients without the rare severe mutations, targeting TLR7 is likely to be useful (without the need to screen women). “
The findings may also shed light on why lupus is much more common in females: “TLR7 is on the X chromosome, in an incompletely muted locus… So females express more TLR7 than males. [poiché hanno due cromosomi X] . An increase in TLR7 activity, both genetic and environmental… would be more damaging to females and more likely to trigger disease, ”Vinuesa explained.
The team is now working on developing new drugs to target the TLR7 gene and proteins that act in the same path, with the hope of finding a potential therapy for lupus and possibly other autoimmune diseases, such as rheumatoid arthritis and dermatomyositis. According to Vinuesa, this may not be too far off:
“There are already TLR7 inhibitors on the shelf and they are being perfected to inhibit this receptor in a very specific way. Several pharmaceutical companies are now working on this (therefore, we are not talking about the distant future) “
finally concluded the researcher.
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