New Research Discovers One of the Mystery Causes of Lupus, Which Primarily Affects Women

Researchers say they have found a root cause and even a potential new way to treat lupus, one of the most common autoimmune diseases in the world. Scientists at Northwestern Medicine and Brigham and Women’s Hospital found a molecular defect that leads to the condition that disproportionately affects women (90% of patients are women ages 15 to 44). 

Lupus is an autoimmune disease that involves overactive T and b cells in the immune system. At their core, b cells produce antibody molecules that can destroy invading viruses and bacteria. T cells are direct fighters of foreign invaders and can protect the body from infections.

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“Our study shows that patients with lupus have a dramatic imbalance in the types of T cells responses that they generate,” said Deepak Rao, MD, PhD, a rheumatologist at Brigham and Women’s Hospital in Massachusetts and one of the study authors.

The study was conducted by comparing blood samples from 19 patients with lupus to blood samples of those who did not have the disease. Here’s more on the study findings and what you need to know about the genetic implications of lupus.

So what causes lupus? 

Researchers found that in patients with lupus there is too much of a protein called interferon, which helps regulate the body’s response to bacteria or environmental pollutants. This imbalance leads to an increase in b and T cells that increase the production of proteins called antibodies that target and injure tissues. If the imbalance is restored and blocks the receptor, the cells can essentially be repaired to heal wounds. It also stimulates the production of T cells that are involved in creating autoantibodies, which attack healthy cells and are a key factor in developing lupus. 

“This approach can be safer and potentially more effective than current broad immunosuppressive therapies because it targets the disease-causing cells,” said Jaehyuk Choi, one of the study authors and a dermatologist at Northwestern Medicine. “While we don’t know which patients this can best help, our data suggests it could potentially be broadly useful for all patients with lupus.”

How does lupus manifest? 

Lupus can affect many parts of the body, and symptoms can vary from person to person and range from mild to severe. The most common symptoms include rashes on the face and body, painful joints, fatigue, and difficulty breathing. The disease is likely caused by a combination of genetics, hormones and environmental factors. While it’s not hereditary, certain gene variations can increase a person’s risk of developing lupus. 

Environmental factors that may trigger lupus include excessive ultraviolet light (UVA and UVB) from the sun and infections. The UK Lupus Foundation estimates that genetics are estimated to account for 44–66% of the risk of developing lupus, and at least 80 genetic regions are associated with the disease.  

And while 9 out of 10 patients who have lupus are women, the exact reason as to why women are much more susceptible is still unclear. Researchers hypothesize that hormones, specifically estrogen, genetics, and other factors, like stress and immune system issues, can play a role in the development of the disease, but they have not pinpointed a direct cause.

However, this new research provides hope and raises the possibility for a new therapeutic strategy in lupus aimed at preventing damaging functions of T cells, said Dr. Rao. “While the work so far is mostly in vitro, we are enthusiastic to develop this strategy further to eventually have a therapy that we can evaluate in patients,’ said Dr. Rao. “This study is a great example of the value of looking in detail at samples from patients with the disease. Here we learned new insights about how T cells are regulated, and we gained a new idea about how to dampen the damaging immune response in lupus.”

The bottom line

Lupus is an autoimmune disease that presents itself in a wide variety of symptoms and contributing factors. New research suggests that people with lupus have too much of a particular T cell that can cause damage in healthy cells and too little of a different type of T cell that can help with repair. 

Researchers concluded that a new potential therapeutic strategy to treat lupus can aim to treat T cells to reprogram them toward benign or even protective functions. While this research provides a potential root cause of the disease, it does not paint a full picture, especially when it comes to lupus’ disproportionate effect on women. There might be other unknown causes, and other treatment options yet to come.