CANBERRA, March 26 (Xinhua) -- Australian scientists have discovered a gene mutation that causes a chronic skin disease.
In a research published on Monday, a team from the Australian National University (ANU) found that a mutated copy of the IKBKB gene is responsible for causing psoriasis -- an inflammatory skin disease characterized by red scaly and itchy patches across the body.
Patients who have two copies of the mutated gene may develop psoriatic arthritis, causing joint pain, stiffness and swelling, the research found.
Researchers are hopeful that the breakthrough discovery could lead to improved diagnosis and treatment for patients with psoriasis and psoriatic arthritis.
Chelisa Cardinez, a co-author of the study from ANU's John Curtin School of Medical Research, said by using a mouse model the team found that the IKBKB mutation caused an abnormal function in regulatory T cells.
"These cells are normally considered gatekeepers of the immune system. However, we found that this mutation alters the function of these cells, causing them to contribute to inflammation and promote the onset of disease," she said in a media release.
"By developing a better understanding of the IKBKB gene and the role it plays in promoting the onset of these diseases, it could bring us a step closer to one day finding a cure, which would offer new hope for hundreds of thousands of Australians."
According to NGO Psoriasis Australia, more than 1.6 million Australians are living with the disease, almost one third of whom have depression.
International research published in 2021 found the global psoriasis prevalence rate is 2-3 percent, rising to up to 11 percent in some northern European countries. ■
