Arthritis Genes: New Treatment Hope
- A genome-wide association study has pinpointed two genes,RNF144B and ENPP1,as contributors to calcium pyrophosphate deposition (CPPD) disease,a common form of inflammatory arthritis.
- CPPD disease,characterized by the accumulation of calcium pyrophosphate crystals in joints,leads to pain and inflammation.
- Merriman, Ph.D., led investigator from the University of Alabama at Birmingham and the University of Otago, noted the significance of the ENPP1 gene.
Groundbreaking research identifies the RNF144B and ENPP1 genes as key players in calcium pyrophosphate deposition (CPPD) disease, offering fresh hope for arthritis sufferers. This study, published in the Annals of the Rheumatic Diseases, reveals crucial insights into this common form of inflammatory arthritis, affecting a meaningful portion of older adults. The discovery of ENPP1, in particular, sparks excitement due to its role in the formation of CPP crystals, potentially opening doors for innovative treatments.Scientists are already exploring ENPP1 inhibitors as a new therapeutic approach,which could significantly impact patients. News Directory 3 reports on the latest developments. With current treatments primarily focusing on managing inflammation, these findings mark a significant step forward. Discover what future studies hold for CPPD disease and the potential for more effective therapies.
Genes Linked to Calcium Pyrophosphate Deposition Disease Identified
Updated May 28,2025
A genome-wide association study has pinpointed two genes,RNF144B and ENPP1,as contributors to calcium pyrophosphate deposition (CPPD) disease,a common form of inflammatory arthritis. The research,published in the Annals of the rheumatic Diseases,analyzed genetic data from a large cohort of U.S. veterans with both European and African ancestry.
CPPD disease,characterized by the accumulation of calcium pyrophosphate crystals in joints,leads to pain and inflammation. it’s estimated that around 10% of middle-aged adults and 30% of those over 80 show imaging evidence of the condition.
Tony R. Merriman, Ph.D., led investigator from the University of Alabama at Birmingham and the University of Otago, noted the significance of the ENPP1 gene. He said the protein encoded by ENPP1 controls the production of adenosine monophosphate and inorganic pyrophosphate, chemicals that, along with calcium ions, lead to the formation of CPP crystals.
Sara K. Tedeschi, MD, MPH, co-investigator from Brigham and Women’s Hospital and Harvard Medical School, expressed excitement about the ENPP1 link. Tedeschi said that ENPP1 generates inorganic pyrophosphate, a component of CPP crystals, and trials testing ENPP1 inhibitors in CPPD disease would be of great interest.
While RNF144B’s role remains less clear,research suggests it may be involved in inflammation. Drugs targeting ENPP1 are already in growth for other conditions, raising the possibility of repurposing them for CPPD disease.
The most significant result of our research was the discovery of one of the genes, ENPP1… The protein encoded by this gene controls the production of chemicals that, together with calcium ions lead to the formation of the CPP crystals.
The genome-wide association with ENPP1 is particularly exciting to me as a rheumatologist as it makes sense: ENPP1 generates inorganic pyrophosphate, one of the components of CPP crystals… trials testing ENPP1 inhibitors in CPPD disease would be of great interest.
Josef Smolen, MD, Editor-in-Chief of the Annals of the Rheumatic Diseases, highlighted the unmet need for effective CPPD treatments. Current approaches primarily focus on alleviating inflammation with drugs like non-steroidal anti-inflammatory drugs,colchicine,or prednisone.
What’s next
The identification of these genes offers potential new targets for calcium pyrophosphate deposition treatment. Researchers are hopeful that this discovery will pave the way for developing novel therapies to address this common and frequently enough debilitating condition.