Jul 22, 2019 | Updated: 09:15 AM EDT

Scientists Discover How Lupus Evolved From Mutation

May 24, 2019 09:31 AM EDT

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(Photo : By Yikrazuul - Own work; http://mt.seas.upenn.edu/Archive/Graphics/A/gallery.html, Public Domain)

Lupus is an autoimmune disorder that affects half a billion of the population worldwide. Only a few details about the said disease are known. In fact, the main cause and cure for lupus is unknown. The said disease can infect a person out of nowhere and cause inflammation, tissue damage to blood vessels, organs, and skin. The possibility of being genetic related was not considered until the 1950s. After seven decades, two possible causes of it were discovered.

Immunologist Simon Jiang and his colleagues have found the major cause of lupus after six years of research. A pair of rare genetic mutations are behind the autoimmune disorder. The genetic abnormalities are said to drive the immune system to attack the body's own tissue and are mostly found in a lupus patient.

"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 Jiang, a researcher at the University of Australian National University.

It is first believed that the two rare variants do not play an active role in the disease and yet it was found that both were responsible for the mysterious hallmark of it. Previous studies have shown that something unknown cause an over and spontaneous production of an immune molecule even without a virus infection as what has been found in most lupus patient, according to Science Alert.

The molecules are type 1 interferons (T1 IFN) which can affect the development of white blood cells (B cells) when they multiply in an undesirable number. The situation will have triggered the rise of two mutant genes; BLK and BANK1. In their study, they found out that the two mutant genes were common among 69 lupus patients than 97 healthy elderly participants, the same observations were obtained when the study was repeated with 64 lupus patient. Additionally, using mouse models, results showed that the variants tend to increase the amount of malfunctioning of B cells.

"Significantly, we demonstrate that these rare variants exert measurable damaging effects on protein function, ultimately leading to a common endpoint of increased T1 IFN activity in human B cells," the authors stated.

Given the fact that lupus can be caused by either hormonal and environmental factors, genetic factors are one of the major aspects that should also be a concern. An identical twin has a fifty percent chance of sharing the disease.

"It will only take a few weeks to get a patient's genome sequence," Jiang stated.

"We can look at how the immune system genome sequencing. We can fit the pieces together and see if it is lupus," he added.

On the other hand, aside from the fact that new treatments are still limited, Jiang's research was also not enough to help physicians with diagnosis. Despite these facts, the FDA had introduced a new drug in 2011 for the disease.

"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," Jiang concluded.

"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."

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