NCRC funded investigators at the UCD Centre of Arthritis Research have identified a novel mutation in a critical gene involved in inflammation, in patients with the rare auto-inflammatory disease, Behcet’s disease
Rheumatologists working in Croom hospital, a University of Limerick Hospital, noticed there were more cases of a rare disease called Behcet’s disease in Ireland’s Midwest that they would expect. They teamed up with an expert group of researchers in UCD Dublin and the University of Leeds to understand more about this disease.
Behcet’s Disease is caused by blood vessel inflammation throughout the body and causes several symptoms that can seem unrelated at first. These can include severe mouth and genital ulceration, eye inflammation, skin rashes, and bowel inflammation. There is no diagnostic test for Behcet’s Disease and what causes it is not yet fully understood. The Irish researchers identified a number of family clusters of Behcet’s disease and were supported by the NCRC to investigate the underlying cause of this disorder.
In new research published in a top rheumatology journal, Arthritis and Rheumatology, they demonstrate how their research in one three-generation Irish family lead to the discovery of a new mutation in the DNA that codes for a critical gene involved in inflammation. This gene, called RELA, is important in directing the body’s immune response.
Dr. Emma Dorris, a scientist in the UCD School of Medicine and senior author of the study said:
“RELA is active in response to immune signals from the body. Usually, these signals cause it to move to the nucleus of the cells where it is part of a control team, turning on and off different genes so that our cells can respond in an efficient manner to the cause of inflammation, be that an injury or invasion by bacteria or virus. This mutation, however, chops off the end of RELA. It can still move into the nucleus, but it is no longer able to turn on and off the genes as it should. This means the immune response is no longer as efficient as it should be.”
Prof. Gerry Wilson, consultant rheumatologist, UCD Chair of Rheumatology and Principle Investigator on the study explains the importance of this finding for patients:
“We have excellent treatments to combat inflammation nowadays. However, for these to work we need to know what is driving the inflammation so we can select the best treatment for each patient. This research gives us new knowledge in understanding this disease, and allows us to make better, more informed, treatment decisions for our patients”.
The National Children’s Research Centre, supported by the Children’s Health Foundation, Crumlin, supports this type of research as it provides evidence that allows paediatricians to choose the most appropriate treatment for each child and family. This research will lead to earlier and better disease treatment, preventing tissue damage and improving the quality of life of children with this familial Behcet’s-like disease.
The complete publication can be found through the following link:
Fahd Adeeb*, Emma R. Dorris*†, Niamh E. Morgan*, Dylan Lawless, Aqeel Maqsood, Wan Lin Ng, Orla Killeen, Eoin P. Cummins, Cormac T. Taylor, Sinisa Savic, Anthony G. Wilson* and Alexander Fraser*. A novel RELA truncating mutation in familial Behçet’s Disease-like mucocutaneous ulcerative condition. Arthritis Rheumatol. 2020 Sep 23. doi: 10.1002/art.41531. (Pubmed)
*Authors contributed equally to study. † Corresponding author (firstname.lastname@example.org)