Researchers have long pondered whether there is a genetic cause of systemic lupus erythematosus, known as lupus for short. Lupus is a systemic autoimmune disease that occurs when the body’s immune system attacks its own vital organs and tissues, resulting in widespread inflammation and debilitating symptoms. Now, researchers have discovered a genetic mutation in a young patient, whose DNA may be the key to finding a cure for the disease that affects at least 5 million people worldwide.

One Girl’s Case My Help Solve the Mystery

Gabriella Piqueras, a 16-year-old teen from Madrid, is the center of a new research study published in Nature magazine. Ever since Piqueras was five years old, she has suffered from debilitating symptoms, like constant bruising and bleeding beneath her skin. She was admitted to a hospital in Madrid for treatment, where she was diagnosed with lupus as the cause behind her painful symptoms.

Piqueras’ DNA was recently studied by Carola Garcia de Vinuesa, a leading immunologist at the Francis Crick Institute in London. In the study, it was discovered that she had a genetic mutation on her DNA that activates the TLR7 receptor in her cell’s membranes. This receptor activation normally causes immune cells to recognize and attack threatening viruses, but in Piqueras’ case, it causes her immune cells to attack her organs and tissues instead.

Discovering a Genetic Cause for Lupus

After discovering the genetic mutation in the patient’s cells, researchers modified the DNA of mice in a lab at Australian National University in Canberra. As a result, the mice went on to develop lupus. Lead researcher Garcia de Vinuesa commented on the study, saying: “It was already known that this receptor appeared to be activated in lupus patients, but no one knew if it was a cause, a consequence or a side effect of inflammation. Now we can show that it is the cause.”

The discovery of the TLR7 receptor as a genetic cause of lupus is significant. Not only does it show that genetics can lead to development of the disease, it could also explain why 90% of lupus patients are women. Garcia de Vinuesa explains that the instructions for making TLR7 are located on the X chromosome on our DNA. Since women have two X chromosomes on their DNA, and men only have one, women are significantly more likely to develop the disease.

Environmental Factors May Also Play a Role

Maria Galindo, a Madrid-based rheumatologist, states that although the study’s findings are important, it’s also important to consider the environmental causes of lupus as well. She explains that there is “a base of genetic susceptibility that, in the presence of external stimuli, triggers an exaggerated autoimmune reaction.” She concludes, “Everything indicates that the TLR7 pathway is very important, but it is not the only one.”

While more research is required to understand both the environmental and genetic factors behind lupus, this Spanish study sheds light on the chronic autoimmune disease that is often referred to as a ‘cruel mystery’. With more scientific research into lupus, more treatments can be developed to help the 5+ million people living with the disease worldwide. And for patients like Gabriella Piqueras, that could make all the difference.