Lupus is an autoimmune disease affecting the skin, joints, and organs. It is essentially a chronic condition that wears a person out. In difficult situations, symptoms can be crippling, and the results can be fatal. The illness, which affects about 50,000 people in the UK, remains incurable. The majority of therapies are immunosuppressors, which work by reducing immunological activity to relieve symptoms.
In a new study, the source of the autoimmune disorder lupus has been identified. Research demonstrated that DNA abnormalities in a gene that detects viral RNA could open the door for developing novel therapies. This is a huge advancement for Autoimmune Disease Diagnostics Market as it will provide a ray of hope for patients suffering from the disease. The study is also relevant as this is the first instance where a TLR7 mutation has been linked to lupus, offering concrete proof of one possible origin of the illness.
The team introduced the mutation into mice using CRISPR gene-editing to demonstrate that it is the cause of lupus. These mice later developed the illness and displayed comparable signs. Thus, indicating that the TLR7 mutation was the root cause. The TLR7 protein is mutated in a way that makes it easier for it to attach to guanosine, a component of nucleic acids, and makes it more active. As a result, the immune cell becomes more sensitive and is more prone to mistake healthy tissue for foreign or injured tissue and launch an assault against it.
The research may also shed light on why females experience lupus on average ten times more frequently than men. TLR7 has two copies in females and one in males since it is located on the X chromosome.
One X chromosome in females is often dormant, but the second copy of this chromosome is frequently not completely silenced. This indicates that females with this gene's mutation can have two functional copies.
Lupus patients are expected to gain from the discovery that TLR7 is the cause of the disease in this extremely severe case, which gives promise for better-focused medicines.
Researchers hope this discovery may encourage lupus patients and let them realise they're not fighting this battle alone. Further investigation is expected to lead to a specific therapy that would help countless lupus patients.
There are other systemic autoimmune illnesses in the same large family as lupus, including rheumatoid arthritis and dermatomyositis. TLR7 might be involved in these issues, the study suggests.