Scientists Discover Psoriasis Gene

Dr. Chelisa Cardinez working in the lab | Image by Jamie Kidston/ANU

Researchers have isolated the gene responsible for the development of psoriasis and hope that targeted treatment of the skin condition may keep it from spreading to other body parts.

Psoriasis is an immune-mediated disease often characterized by inflammation and scaling on one’s skin. The inflammation can, however, spread to the joints, resulting in psoriatic arthritis, according to the National Psoriasis Foundation.

The disease affects an estimated 125 million around the world — roughly 2 to 3% of the total population — and about eight million in the United States.

Researchers from The Australian National University documented their findings in a new study published Monday in the journal Nature Communications.

Using mice, researchers succeeded in identifying the gene — known as IKBKB — responsible for the transition between psoriasis and psoriatic arthritis.

Dr. Chelisa Cardinez, a member of the team, and her colleagues discovered that if a test subject had two copies of the mutated gene, the subject would likely develop psoriatic arthritis. Cardinez explained that the occurrence of this mutation led to “abnormal function” of 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,” said Cardinez in a press release.

Rebecca Davey, who lives with psoriasis and psoriatic arthritis, said the disease is very misunderstood.

“So many people are accused of having poor hygiene due to the plaques or even just minor skin lesions as they erupt. It’s not the individual’s fault that their skin is in the condition it’s in; psoriasis is a painful, debilitating condition,” she said.

Besides mistaking the lesions for poor hygiene, people do not understand the toll the disease takes on someone.

“We must raise greater awareness of invisible disabilities such as those created by these conditions. A person might look ok from the outside, but in reality, they are struggling on a daily basis. …  People don’t understand the debilitating effects these conditions can have on the individual and, in fact, a whole family when someone is in constant pain, has poor sleep from pain, and feels constantly fatigued,” she said.

“My psoriatic arthritis drugs have largely reduced the larger outbreaks on my skin, but you do have to consider everything you put on your skin and the fabrics you wear. As a former nurse, even the constant hand washing that was required for work would cause my skin to flare up. It’s one of the reasons why I no longer work in the hospital system.”

The team hopes that their research can be used to inform treatment options for the disease and potentially remove the stigma associated with it.

“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,” said Cardinez.

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