Researchers Uncover Gene Mutation Responsible for Psoriasis

(Orawan Pattarawimonchai/Shutterstock)

Researchers at the Australian National University (ANU) have identified a gene mutation that causes psoriasis.

Psoriasis is a skin disease that causes a rash with itchy, scaly patches, most commonly on the knees, elbows, trunk, and scalp.

In a paper published in the journal Nature Communications, scientists revealed a mutation of the IKBKB gene causes psoriasis.

Two copies of this gene mutation can lead to the development of psoriatic arthritis, a joint swelling condition that is linked with psoriasis.

“Here we show that mice heterozygous for an IKBKB mutation develop psoriasis,” the paper said.

“Doubling the gene dose results in dactylitis, spondylitis, and characteristic nail changes, which are features of psoriatic arthritis.”

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About 7.5 million to 8 million people in the United States have psoriasis, while there are 125 million sufferers worldwide.

In Australia, it is estimated that about 2.3 to 6.6 percent of the population is impacted by the immune-related inflammatory condition.

ANU John Curtin School of Medical Research postdoctoral scientist Chelisa Cardinez, who was the lead author of the paper, explained the scientists discovered the mutation using a mouse model.

“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,” Ms. Cardinez 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.”

Currently, there is no cure for psoriasis, only treatment options, including ointments for the skin, oral therapy, and injections.

Ms. Cardinez believes the published research on the IKBKB gene could provide hope a cure for Psoriasis is possible in the future.

“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,” she said.

She also highlighted the importance of early detection of psoriatic arthritis.

“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,” she said.

Two New Psoriasis Treatments Placed on PBS

Two new psoriasis treatments were listed on the Australian government’s Pharmaceutical Benefits Scheme (PBS) scheme on 1 Oct. 2023.

The medicine Bimekizumab, which is administered via two injections with pen devices, was added to the PBS for patients with severe chronic plaque psoriasis.

A 6 mg tablet known as Deucravacitinib was also listed for treating the severe form of the disease. Both of these treatments require authority.

St Vincent’s Hospital Melbourne Associate Professor Peter Foley described the listing as a “major milestone.”

“The reimbursement of this first-in-class therapy option for Australians living with severe chronic plaque psoriasis represents a major milestone in helping to address the substantial, unmet, clinical need for these patients,” he told Royal Australian College of General Practitioners publication newsGP.

Dr. Foley highlighted patients with plaque psoriasis can appear to recover from the disease, before relapsing, meaning they require long-term treatment.

“Plaque psoriasis is characterised by periods of relapse and remission, with patients often requiring long-term, potentially lifelong, treatment to maintain symptom control and prevent flares,” he said.