Groundbreaking Discovery Paves Way To A New Understanding Of Lupus

Scientists have found out thet previously ignored genetic mutation turns out to be the cause of lupus.Prof. Carola Vinuesa, together with fellows discussing the results of the groundbreaking study. Photo: Australia National University

For a very long time, the medical world has had very little understanding of the autoimmune disease called lupus, but the dark days for victims of this deadly disease may come to an end as researchers were finally able to determine what causes it.

In a groundbreaking discovery, researchers from Australian National University (ANU) found out and successfully demonstrated that previously ignored genetic mutations are a significant cause of lupus.

Lupus (lupus erythematosus) is a collection of autoimmune diseases in which the human immune system becomes hyperactive and attacks healthy tissues. Symptoms of these diseases can affect many different body systems, including joints, skin, kidneys, blood cells, heart, and lungs. The most common and severe form is systemic lupus erythematosus.

The landmark discovery, entitled “Functional rare and low-frequency variants in BLK and BANK1 contribute to human lupus,” was recently published in Nature Communications Journal. The study was able to “demonstrate the functional consequences of rare and low-frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines and increase pathogenic lymphocytes in lupus-prone mice.”

With the discovery, a new set of understanding on the cause of the disease can be paramount in developing new treatments to put an end to the pain caused by this uncured illness and can potentially save lives in the future.

The main researchers of the study were ANU’s Dr. Simon Jian, Dr. Vicki Athanasopoulos, and Professor Carola Vinuesa. Because of them, the day when the understanding of lupus is finally over. Dr. Jiang, one of the researchers, working on the study, has spent six years analyzing the genetic instructions locked in DNA, which lead to the disease.

“We have shown for the first time how rare gene variants that occur in less than one percent of the population cause lupus and how these variants drive the disease in the body,” said Dr. Jiang, from the Centre for Personalised Immunology, an NHMRC Centre for Research Excellence at ANU.

Dr. Simon Jiang. Photo: Australia National University

Dr. Jiang noted that until their study, these genetic variants were neglected and their effect on autoimmunity and related auto-immune diseases were negligible. But the new research showed otherwise.

“We’ve shown how most lupus patients harbor those so-called rare gene variants and how these rare gene variants cause immune cells to no longer work properly […] When the cells no longer work, your immune system struggles to distinguish viruses and bacteria from self, leading to lupus,” said Dr. Jiang.

The groundbreaking discovery can pave the way to a new series of targeted and personalized treatment to people living with lupus and other autoimmune diseases.

“I’ve already started treating people who have these rare gene mutations with targeted therapies instead of bombarding their immune system with non-specific treatments that have lots of side effects—which is the current mainstay of therapy […] And because the genes we have worked on are linked to other autoimmune diseases, our discovery could also be applied to conditions like rheumatoid arthritis and type 1 diabetes.”

Interestingly, according to the researchers, the discovery can also help medical doctors and researchers determine how severe an individual’s lupus is, on top of the way the said disease can be targeted through personalized treatment.

“Lupus is a disease that can be very hard to diagnose. You can have a lot of illnesses that look like lupus, smell like lupus, but we can’t formally call it lupus […] It now will only take a few weeks to get a patient’s genome sequence. We can look at how the immune system is behaving, take blood tests, and with genome sequencing, we can fit the pieces together and see if it is lupus,” Dr. Jiang added.

As a pioneering discovery, Dr. Jiang considers their work as his personal success story and a victory in itself for he has seen so many people who have lupus.

“When I was a junior doctor, I had a patient in her 40s who died because of an autoimmune condition, and we just could not figure out what was wrong. That shouldn’t happen, and it affected me a lot. I’d like to think if she came to me nowadays I’d be able to do something different. I hope I’d be able to save her life,” he said.

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