New hope for patients as genetic mutation causing psoriasis is identified

We now know that mutations in the gene IKBKB causes the chronic inflammatory skin disease psoriasis, according to a new Australian study published overnight in the journal Nature Communications.

People with psoriasis have overactive immune systems that cause them to develop red, scaly, and itchy patches across their body. More than 4.6 million people were living with psoriasis globally in 2019.

This world first discovery also identified what drives the skin-only disease to occasionally progress to a skin and joint disease known as psoriatic arthritis. It’s hoped that the findings will lead to improved diagnosis and treatment for patients.

“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,” says first author Dr Chelisa Cardinez, from the Australian National University John Curtin School of Medical Research.

“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.”

Read more: New ways to psoriasis relief

The mutation in the IKBKB gene is what’s known as a gain-of-function mutation.

They found that mice with a single copy of the mutated IKBKB gene developed a skin disease with characteristics of psoriasis. While those with two copies of the mutation resulted in psoriatic arthritis.

Currently, there is no cure for psoriasis or psoriatic arthritis, though treatments exist to help manage the conditions.

“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,” says Cardinez.

“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.”

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