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Scientists identify a genetic mutation responsible for psoriasis — DNOTICIAS.PT

Scientists identify a genetic mutation responsible for psoriasis — DNOTICIAS.PT

Scientists at the Australian National University have discovered a genetic mutation responsible for psoriasis, a chronic inflammatory skin disease that causes raised, red, scaly lesions and can also affect the joints.

Psoriasis is an autoimmune disease that occurs when the immune system attacks healthy cells that it mistakenly sees as a threat.

The results of the research, which was conducted on mice, were published in the scientific journal Nature Communications, the Spanish news agency EFE reported today, citing a statement from the university.

One of the researchers, Chilisa Cardinez, said that if they have two copies of this mutated gene (known as IKBKB), psoriasis patients can develop psoriatic arthritis, which causes pain, stiffness and swelling in the joints.

According to the Portuguese Psoriasis Society, psoriatic arthritis mainly affects the finger joints and spine and “about 10-30% of patients develop this type” of the disease.

Cardinez explained that the scientific team discovered that the mutation affects regulatory T cells, which normally regulate the immune system's response to diseases and which, in this case, contribute “to inflammation and encourage the onset of diseases.”

This discovery now allows scientists to understand why a disease that only affects the skin develops into one that also causes joint damage, and they hope this will improve the diagnosis and treatment of patients.

According to the researcher, there are studies showing that delay in diagnosing psoriatic arthritis is associated with worse clinical outcomes for patients.

There are currently treatments that can help control the disease.