A breakthrough study led by researchers at York University has identified a genetic mutation that can dramatically reduce inflammation, paving the way for potential new treatments for rheumatoid arthritis.
A new study led by researchers at York University’s Faculty of Health has uncovered a genetic mutation that could revolutionize the treatment of rheumatoid arthritis. Published in the Journal of Autoimmunity, the research illuminates how a specific mutation in the protein TRAF1 can suppress the overactive immune responses that drive inflammation.
Lead researcher Ali Abdul-Sater, an associate professor in the School of Kinesiology and Health Science at York University, delves into the significance of the findings.
“Rheumatoid arthritis is a common health condition which can interfere with many aspects of daily life and based on the limited efficacy of current treatments, novel approaches are needed,” Abdul-Sater said in a news release. “In this study, we have made a discovery that may pave the way for more effective treatments for rheumatoid arthritis and other inflammatory diseases.”
The research team utilized advanced gene-editing technology to pinpoint a critical mutation in TRAF1. This mutation was shown to significantly reduce inflammation by disrupting a vital molecular interaction responsible for hyperactivating the immune system.
“TRAF1 plays a central role in immune signaling and is known for its dual roles: it helps amplify inflammatory signaling in some contexts while also acting as a brake to limit overactive responses,” Abdul-Sater added. “These opposing roles have made TRAF1 a challenging target for therapeutic intervention — until now.”
The specific genetic mutation occurs at position valine 196 (V196) and selectively hinders TRAF1’s interaction with other proteins, effectively shutting down a major inflammatory pathway.
“The mutation effectively shuts down a cascade of molecular events that drive excessive inflammation,” added Abdul-Sater.
Rheumatoid arthritis impacts approximately 1% of the global population, causing joint stiffness, swelling and pain. Over time, it can lead to the destruction of joints, cartilage and bone, severely impacting daily activities.
Existing treatments, like steroids and biologics, aim to suppress inflammation but often fall short and come with significant risks, such as increased susceptibility to infections and cancer, noted Abdul-Sater.
This new discovery offers a beacon of hope for novel and more targeted rheumatoid arthritis therapies.
“Such therapies could not only alleviate symptoms but also address the underlying mechanisms of inflammation, benefiting patients who do not respond to existing options,” Abdul-Sater added.