A new breakthrough in lupus research has recently made headlines in Spanish newspapers. An international research team led by immunologist Carola Vinuesa has found a genetic mutation linked to a lupus patient. This discovery raises three important questions for us: what is lupus, what is the new discovery (and why is it important), and how will it help people with the disease. Let’s go piece by piece.

What is lupus?
Lupus is an autoimmune disease, that is, a disease in which the immune system turns against the body itself. It is a chronic disease that accompanies patients throughout their lives and can sometimes be fatal.

Another feature is that it is difficult to diagnose because its symptoms are similar to those of many other diseases. One of the symptoms it shows, although it doesn’t always do it, is a skin rash on its cheeks.

The disease can lead to complications in the kidneys, lungs, and various parts of the circulatory system (among other parts of the body). There is no known cure today, and its treatment is based on relieving symptoms through drugs that suppress the immune system, drugs that reduce the effect of the immune system and prevent it from overcoming its protective function.

What was discovered?
What the team discovered is a mutation in the TLR7 gene, a gene linked to the immune system sensitive to viral RNA. A gene is a region in long chains that make up human DNA. This DNA segment, TLR7, is located on the X chromosome (one of the two that determines sex in humans). DNA itself is a helical string of proteins and this mutation assumes a minimal change in this strand, an altered protein. A small change that alters the function of the entire gene and causes a failure that affects most of the human body.

The team found this mutation in a Hispanic patient, a Hispanic girl who showed a strong improvement in the disease. The researchers used the CRISPR system to introduce this mutation into the genetics of laboratory mice to confirm their theory and gather evidence against the main suspect mutation. The multinational team started a search for this mutation in other patients and found more lupus patients with this mutation.

Why is this discovery important?
Until now, little was known about the origin of lupus, hence the significance of this new discovery. Lupus is thought to be caused by a combination of genetic and environmental factors. In other words, a person with a genetic predisposition will develop the disease if they come into contact with something in their environment that acts as a “spark” or trigger. The disease affects people of all ages, but is particularly common in women.

How will you help people with this disease?
It’s too early to tell, but any progress in treatment that may result from this discovery will require years of development. In the press release announcing the discovery, Vinuesa noted the difficulty of finding effective treatments for lupus and the “serious side effects” that immunosuppressants involve.

In any case, the researchers assured that they are already working with pharmaceutical companies to develop or tailor lupus treatments that focus on the TLR7 gene, and they are starting the race for this discovery to have a truly positive impact on patients’ quality of life. lupus.

“A delicate balance”.
There is another curiosity about this case, and several studies in recent years have shown that variations in this gene, particularly variations that limit its function, are linked to more severe cases of covid. This is a reminder of the importance the immune system plays in our ability to survive.

Image: University of Trnava