Health, Australia (Commonwealth Union) – Researchers at The Australian National University (ANU) have unearthed a significant breakthrough in understanding psoriasis, a chronic inflammatory skin condition characterized by red, scaly, and itchy patches across the body. They’ve pinpointed a gene mutation, dubbed IKBKB, as the culprit behind this ailment.
Gene mutation is a fundamental process in genetics, playing a crucial role in evolution, genetic diversity, and the development of various diseases. From beneficial adaptations to debilitating disorders, gene mutations shape the biological landscape in profound ways.
Dr. Chelisa Cardinez, an ANU researcher, explains that the presence of two copies of this mutated gene could lead psoriasis patients to develop psoriatic arthritis, a condition marked by joint pain, stiffness, and swelling.
This groundbreaking discovery sheds light on the transition from a purely skin-related disorder to one affecting both the skin and joints, thanks to the pioneering work at ANU.
The hope is that these findings will pave the way for enhanced diagnosis and treatment strategies for individuals grappling with psoriasis and psoriatic arthritis, conditions that often carry societal stigma.
Dr. Cardinez, based at the ANU John Curtin School of Medical Research (JCSMR), elucidates that through experiments utilizing a mouse model, they observed abnormal functionality in a subset of immune cells known as regulatory T cells, triggered by this mutation.
“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.”
Rebecca Davey is among the 500,000 Australians grappling with psoriasis, a condition she shares with psoriatic arthritis. For her, the mornings bring extreme stiffness and pain, making even getting out of bed a challenge.
Ms. Davey emphasized that many fail to grasp the profound impact these ailments can have, not just on the individual but on their entire family. Constant pain, disrupted sleep, and perpetual fatigue are realities.
“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.”
Psoriasis and psoriatic arthritis represent autoimmune ailments, where the immune system erroneously targets healthy cells as threats. According to Arthritis Australia, three in ten Australians grappling with psoriasis eventually develop psoriatic arthritis.
Researchers of the study pointed out the fact that while no definitive cure exists for psoriasis, various treatments exist to manage its symptoms. In October 2023, a new subsidized medication was added to the Pharmaceutical Benefits Scheme (PBS) for Australians suffering from severe psoriasis.
Ms. Davey, who also serves as CEO of Arthritis ACT, underscores the need to dispel the stigma surrounding these conditions. She emphasizes that psoriasis remains widely misunderstood within the community.
She pointed out that many individuals face unwarranted accusations of poor hygiene due to the appearance of plaques or even minor skin lesions during flare-ups, further emphasizing that It’s crucial to recognize that the condition of one’s skin is beyond their control; psoriasis constitutes a painful and debilitating ailment.
“I had no idea what was causing my hands to flare up all the time. Our poor GPs often don’t recognise these conditions early.
“In regional and rural areas there is a drastic shortage of specialists both in dermatology and rheumatology to diagnose and treat these conditions, and people can wait over a year for an appointment if their symptoms are less dramatic.
“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.”
According to Dr. Cardinez, research indicates that delays in diagnosing psoriatic arthritis led to poorer clinical results for patients. Hence, it is crucial to identify and treat these immune diseases earlier to enhance health outcomes.
She further indicated that by exploring the functions of the IKBKB gene and its involvement in triggering these conditions may advance us towards discovering a cure. This prospect holds promise for countless Australians, offering renewed hope for the future.
