In lupus breakthrough, researchers say they may have found what causes the autoimmune disease
Researchers from Northwestern Medicine and Brigham and Women’s Hospital claim they have found a “molecular defect" that leads to lupus. Autoimmune experts weigh in on the potential impact.
Scientists may have pinpointed a primary cause of lupus, a chronic autoimmune disease.
Researchers from Northwestern Medicine in Chicago and Brigham and Women’s Hospital in Boston claim they have found a "molecular defect" that leads to systemic lupus erythematosus (known as lupus).
The study findings were published in the journal Nature on Wednesday.
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"Lupus is an autoimmune disease that at its core involves abnormal B cell activation and antibody production," study author Deepak Rao, M.D., PhD, an assistant professor of medicine at Harvard Medical School and a rheumatologist at Brigham and Women’s Hospital, told Fox News Digital via email.
"This B cell activation and antibody production requires help from T cells (white blood cells that are integral to immune system activity)."
In the course of the research, the scientists tested the blood of 19 lupus patients and compared it to a control group of healthy individuals.
The people with lupus shared certain molecular changes that caused a "dramatic imbalance" in the types of T-cells they generate, according to Rao.
This imbalance resulted in too many "harmful" T-cells — which cause cellular damage — and too few of the "helpful" type that are necessary for cell repair.
The researchers also identified a protein called interferon that promotes the excess accumulation of T cells, Rao said.
"We have known for many years that patients with lupus have too much interferon production, yet how interferon contributes to disease has been unclear," he said.
The study discovered that interferon contributes to the lupus disease by promoting the expansion of certain types of T cells and "amplifying pathologic T cell-B cell interactions," Rao said.
The researchers also discovered that the activation of one specific protein, the aryl hydrocarbon receptor (AHR), can prevent T cells from developing into disease-causing cells.
"This study reveals a new potential therapeutic strategy to treat lupus," Rao said.
"We aim to use small molecule activators of AHR, directed specifically toward T cells, as a treatment to suppress the pathologic T cell response in lupus and reprogram those T cells toward other benign or protective functions."
This approach could potentially be safer and more effective than current broad immunosuppressive therapies because it targets the disease-causing cells, according to study co-author Jaehyuk Choi, M.D., PhD, an associate professor of dermatology and a Northwestern Medicine dermatologist.
"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," Choi told Fox News Digital in an email.
Dr. Mara Lennard Richard, scientific program officer at the Lupus Research Alliance in New York City, which partially funded the research, said the study provides hope to those who struggle with lupus symptoms.
"This research is very exciting, and we are intrigued by the findings, which may pave the way to a potential new treatment," Richard told Fox News Digital via email.
"However, lupus is a highly complex disease with many contributing factors, and more research is needed to confirm these results," she went on.
"We believe that many new targets and treatments are needed to improve the lives of people living with lupus."
Brooke Goldner, M.D., a California-based board-certified physician and creator of the Hyper-Nourishing Nutrition Protocol for Lupus Reversal, said that targeted immune therapy using T cells and B cells is a "new and exciting focus" in lupus research.
"If it is proven effective, it would present a far more specific way to medically attenuate the abnormal immune response in lupus patients than current medications that suppress immunity more broadly," Goldner, who was not involved in the study, told Fox News Digital in an email.
"However, the effectiveness and possible side effects of these therapies are still unknown."
It is still unclear how these abnormalities in the immune cells are triggered, she noted.
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"People with lupus are not born with symptoms of the disease, but they are triggered at some point in their lives, which leads to their diagnosis," Goldner said.
"That leaves the question: Are their immune cells actually normal prior to the disease being triggered? Does this trigger then activate abnormal gene expression, which causes the creation of these abnormal immune cells?"
"If that is the case, then the immune treatments [the researchers] are proposing would still be considered a treatment, not a cure, unless they are going to turn off gene expression more specifically and permanently."
The research was mainly performed in-vitro using cells from patients, Rao acknowledged.
"We do not yet know what will happen to the T cell response if activators of AHR are used in people, or how effective this strategy will be to improve symptoms of lupus," he added.
Even so, the researchers are hopeful that this discovery will pave the way to advances in lupus treatment.
"This study is an excellent example of how we can gain new, important insights into the pathways that contribute to disease by doing careful analyses of samples from patients with a disease," Rao noted.
"This ‘human immunology’ approach provided both new insights into how T cells are regulated and a new idea for how to treat lupus."
Lupus is a chronic autoimmune disease in which the immune system attacks healthy tissue in the body, which causes inflammation and pain in the body, according to the Lupus Foundation of America’s website.
The disease most often affects the joints, skin and major organs, such as the kidneys and heart.
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Common symptoms include joint pain, extreme fatigue or a butterfly rash.
There are four different types of lupus, as detailed on the foundation’s website.
Systemic lupus erythematosus (SLE), the most common form, affects multiple organs or organ systems.
Cutaneous lupus only affects the skin, while drug-induced lupus is triggered by specific prescription drugs.
Neonatal lupus is a rare condition that is passed from a pregnant woman to her infant.
Some 1.5 million Americans are living with lupus, with about 16,000 new cases each year, according to the Lupus Foundation of America, based in Washington, D.C.
Lupus can run in families, and it’s also more common among women between 15 and 44 years of age and people who are African American, Asian American, Hispanic/Latino, Native American, or Pacific Islander, according to the same foundation.
In addition to medication, lupus patients can manage their illness with certain lifestyle behaviors, Goldner said, such as eating an anti-inflammatory diet and managing emotional stress.
"The field of lifestyle medicine has shown that symptoms can be reversed long-term using lifestyle modification," she said.
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"It would be extremely interesting to have researchers evaluate the activity of these abnormal immune cells before and after lifestyle modification to see whether it has manifested a similar reversal of the activity of these abnormal B cells without using the more invasive medical treatment."