Researchers at Karolinska Institutet have identified a potential genetic contributor to psoriatic arthritis mutilans (PAM), a rare and severe form of psoriatic arthritis characterized by significant bone and joint damage, particularly in the small joints of the fingers and toes. The team analyzed the genomes of 61 Nordic patients with PAM and discovered rare gene variants in NADPH oxidase 4 (NOX4), an enzyme known for producing oxygen radicals. These radicals are reactive molecules that can damage cells and tissues, and NOX4 also plays a role in creating osteoclasts, cells that break down bone tissue.

This finding links the elevated production of oxygen radicals due to NOX4 variants directly to the accelerated degradation of bone and joint tissues in PAM sufferers. The research offers new insights into the pathogenesis of this debilitating condition and opens up potential avenues for developing targeted treatments aimed at reducing the production of oxygen radicals, thus potentially slowing or halting the progression of the disease. This represents a significant step forward in understanding and possibly treating this extreme form of arthritis, where previous genetic risk factors had not been identified.

Reference: Karolinska Institutet. New discovery could lead to better treatment for severe psoriatic arthritis. Medical Xpress. Updated February 26, 2024. Accessed April 29, 2024. https://medicalxpress.com/news/2024-02-discovery-treatment-severe-psoriatic-arthritis.html