Gene discovery offers hope for psoriasis

[Fred]

This study was passed to me by afternoonfix

Scientists from The Australian National University (ANU) have discovered a gene mutation is responsible for causing psoriasis.

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According to ANU researcher Dr Chelisa Cardinez, if two copies of this mutated gene (known as IKBKB) are present, patients with psoriasis may go on to develop psoriatic arthritis, leaving them with joint pain, stiffness and swelling. Thanks to the world-first discovery from ANU, scientists now know what causes the progression from a skin-only disease to a skin and joint disease.

It’s hoped the findings will lead to improved diagnosis and treatment for patients with psoriasis and psoriatic arthritis – conditions that patients say carry stigma in the community.

“Using a mouse model, we identified that this mutation led to an abnormal function in a group of immune cells known as regulatory T cells,” Dr Cardinez, from the ANU John Curtin School of Medical Research (JCSMR), said.

“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.”

Dr Cardinez said: “Studies have shown that delays in psoriatic arthritis diagnosis is linked to worse clinical outcomes for patients. Therefore, earlier detection and treatment of these immune diseases is key to improving health outcomes.

"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.

Source: anu.edu.au

*Funding unknown.