Scientists identify a genetic mutation responsible for psoriasis

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

Psoriasis is an autoimmune disease, occurring when the immune system attacks healthy cells that it mistakenly perceives as a threat.

The results of the research, carried out on rats, were published in the scientific journal Nature Communications, Spanish news agency EFE reported today, citing a statement from the university.

One of the researchers, Chelisa 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 Association, psoriatic arthritis mainly affects the finger joints and the spine and “around 10-30% of patients develop this type” of the disease.

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 favor the onset of diseases”, explained Cardinez.

The discovery allows scientists to now know what causes the progression of a disease that only affects the skin to one that also damages the joints, and they hope it will improve the diagnosis and treatment of patients.

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

There are currently treatments that can help control the disease.