Australian National University recently announced that the team led by its researchers found that when a gene is over activated, it can lead to the onset of lupus erythematosus. The discovery is expected to help researchers develop new therapies. The research results have been published in the British journal Nature.
Lupus erythematosus is an autoimmune disease, and a large number of patients are women. Current treatment options often make patients more vulnerable to infection and may also reduce their quality of life.
The mutation, called TLR7, was found in a Spanish girl who was diagnosed with lupus erythematosus at the age of 7. Using gene editing tools, the researchers introduced the TLR7 gene mutation in humans into mice and found that it had a symptom similar to the severe autoimmune disease of human lupus erythematosus patients. The researchers believe that this indicates that TLR7 gene mutation can lead to lupus erythematosus.
The role of TLR7 is to help the immune system resist viral infection, but it will be more aggressive in the case of mutation, causing the immune system to attack healthy cells.
The study also helps explain why women are about nine times more likely to develop lupus erythematosus than men. TLR7 gene exists in X chromosome. Women have two X chromosomes, while men have only one X chromosome. Carola binuesa, a professor at the Australian National University and one of the lead authors of the study, said that when women have TLR7 gene mutations, the damage caused by lupus erythematosus may double.
“Autoimmune diseases such as lupus erythematosus have many pathogenic factors, including genetics and environmental effects, which makes them difficult to study.” “So if we can better understand how these diseases develop, we have more opportunities to develop customized therapies with fewer side effects,” said grant Brown of the Australian National University who participated in the study
The communique said that researchers are currently working with pharmaceutical companies to develop new drugs or adjust existing drugs to find drugs that can inhibit TLR7 gene. The mouse model used in the study can be used to test TLR7 gene related inhibitors to help patients with lupus erythematosus delay the disease.