There is no cure for lupus yet, but new genetic research may at least point to what causes lupus and new treatments for the chronic disease, which affects as many as 1 in 250 Blacks according to lupus.org.
An international team of researchers has identified a gene mutation linked with lupus. An autoimmune disease, lupus causes organ and joint inflammation, fatigue and a number of other problems. In severe cases, symptoms can be debilitating and complications can be fatal.
Current treatments focus on suppressing the immune system to ease symptoms.
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"It has been a huge challenge to find effective treatments for lupus, and the immune suppressors currently being used can have serious side effects and leave patients more susceptible to infection. There has only been a single new treatment approved by the [U.S. Food and Drug Administration] in about the last 60 years," says study co-author Carola Vinuesa, co-director of the China Australia Centre for Personalised Immunology (CACPI) and group leader at the Francis Crick Institute in England.
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The link between the mutation and lupus
"This is the first time a TLR7 mutation has been shown to cause lupus, providing clear evidence of one way this disease can arise," Vinuesa added in an institute news release.
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In this study, scientists conducted whole-genome sequencing on the DNA of a Spanish girl who was diagnosed with severe lupus when she was 7 years old. Such a severe case with early onset of symptoms is rare and indicates a single genetic cause, they explain.
The researchers found that the girl had a single-point mutation in the TLR7 gene, which senses viral RNA. They then identified other cases of severe lupus where this gene was mutated.
To confirm that the mutation causes lupus, the scientists said they introduced it into mice. The rodents then developed the disease, according to the study.
"While it may only be a small number of people with lupus who have variants in TLR7 itself, we do know that many patients have signs of overactivity in the TLR7 pathway. By confirming a causal link between the gene mutation and the disease, we can start to search for more effective treatments," says study co-author Nan Shen, co-director of CACPI.
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Combatting lupus
African Americans, Hispanics, Latinos, and Asian Americans have a higher risk of developing lupus nephritis than white people.
Researchers are unclear why lupus affects so many Black people, however, they believe it may be linked to:
- genetics
- hormones
- environmental factors
It can be difficult for doctors to diagnose lupus because there is no specific test for the disease and many of the symptoms of lupus may resemble the symptoms of other diseases.
To successfully get a diagnosis, doctors will use a combination of laboratory tests and symptom assessments.
There is also a set criterion doctors will use to diagnose you. If you have at least four of the following symptoms, you may have lupus:
- Butterfly-shaped rash
- Raised red patches on your skin
- You're sensitive to light
- Ulcers in your mouth or nose
- Arthritis in two or more joints, plus swelling or tenderness
- Inflammation in the lining of your heart or lungs
- Seizures or other nerve problems
- Too much protein in your urine
- Low blood cell counts
- Certain antibodies in your blood
- Results from a blood test called an ANA test that suggest you may have too many "antinuclear" antibodies
Although there is no cure for lupus, your doctor will be able to help you successfully manage the condition and improve your quality of life, however, through a combination of treatments.
