28 Mar Gene Mutation Discovered That May Lead Some Psoriasis Patients to Develop Arthritis
MedicalResearch.com Interview with:
Dr. Cardinez
Chelisa Cardinez PhD
Postdoctoral Researcher
The Burr Laboratory- Cancer Immunology and Epigenetics
Genome Sciences and Cancer Division
The John Curtin School of Medical Research
The Australian National University
Canberra, Australia
MedicalResearch.com: What is the background for this study?
Response: Psoriasis is a skin inflammatory disease that affects approximately 2-3% of the population.
Previous research had identified that the cytokine IL-17 drives the development of this disease. However, key questions that remained unknown about psoriasis included where did the IL-17 come from, and why do some patients with psoriasis also go on to develop systemic inflammatory conditions such as arthritis. Our research aimed to address these questions using a gain of function (GoF) mouse model that carried a genetic variant in a gene called IKBKB.
MedicalResearch.com: What should readers take away from your report?
Response: The first key finding of our study found that the genetic mutation in IKBKB caused regulatory T cells (Tregs) to become inflammatory and become producers of IL-17.
The second key finding was that when we introduced a second copy of the mutated IKBKB gene in mice, they developed psoriatic arthritis. What this means is, we discovered that one explanation for the progression from psoriasis to psoriatic arthritis was the magnitude of the abnormality in IKBKB.
MedicalResearch.com: What recommendations do you have for future research as a results of this study?
Response: These findings may have implications for diagnosis and treatment for human disease and therefore further research into the role of this gene and the pathway that it is involved in (NFkB signaling pathway) may be warranted.
MedicalResearch.com: Is there anything else you would like to add? Any disclosures?
Response: Furthermore, our understanding into the immunoregulatory actions of Tregs have been significantly progressed through gene deletion (loss of function, LoF) studies. Less focus has been placed on elucidating the cellular and molecular pathways of GoF mutations. Our study highlights that investigating GoF mutations can be an important avenue for understanding immune regulation and disease pathogenesis.
No disclosures to be declared.
Citation: Cardinez, C., Hao, Y., Kwong, K. et al. IKK2 controls the inflammatory potential of tissue-resident regulatory T cells in a murine gain of function model. Nat Commun 15, 2345 (2024). https://doi.org/10.1038/s41467-024-45870-3
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Last Updated on March 28, 2024 by Marie Benz MD FAAD