A mutation causing lupus has just been discovered, which could lead to new tests and treatments.
- Lupus is estimated to affect at least 5 million people worldwide.
- Now incurable, it can cause many disabling symptoms, such as fatigue, skin rashes, infertility or even serious damage to the lungs and kidneys, sometimes requiring transplants.
- Researchers have just identified a new therapeutic target that could help treat the disease.
A mutation causing lupus has just been discovered, which could make it possible to design new tests and new treatments to treat this now incurable autoimmune disease.
Based at the Max Planck Institute, the team behind this advance first focused on Toll-like receptors-7 (TLR7), which are responsible for triggering an immune response when viruses and bacteria are detected in the body.
However, if there are too many of these receptors in the body, their functions become muddled and cause immune cells to turn against the body, leading to lupus.
“We already knew from previous experiments on mice a few years ago at the University of Berkeley in California that too many of these receptors were a problem,” explains study director Olivia Majer in a press release.
Lupus: how was the new therapeutic target identified?
To understand how some people’s bodies can end up with too many Toll-like-7 receptors (TLR7), Olivia Majer and her team looked at the molecules that help break them down. They thus identified a protein complex called “BORC” and demonstrated that it required another protein called “UNC93B1” to degrade Toll-like receptor-7 (TLR7).
Neither BORC nor UNC93B1 had previously been associated with lupus, but thanks to specialist Fabian Hauck and a patient from Munich University Hospital, the team’s conclusions were confirmed: the patient did indeed have a mutation in gene encoding UNC93B1.
“When I received the first call from Fabian Hauck, I thought it was too good to be true,” explains Fabian Hauck. “But in eight weeks of joint efforts, we were able to confirm that the UNC93B1 mutation was the cause of this patient’s lupus,” he congratulates himself.
The identification of this new mechanism and the role of UNC93B1 should soon make it possible to test mutations in the protein in the treatment of lupus. If research continues, this protein could even represent a new therapeutic target to minimize or stop the damage caused by the disease.
Lupus triggers many debilitating symptoms
Lupus is estimated to affect at least 5 million people worldwide. It can cause many debilitating symptoms, such as fatigue, skin rashes, infertility and serious damage to the lungs and kidneys, sometimes requiring transplants.
The study cited in this article is published in the journal Science Immunology.
