Celiac disease: CNR reveals the mechanism associated with celiac disease risk
A National Research Council (CNR) study sheds new light on the mechanism associated with celiac disease risk. The study, funded by the Ministry of Education, University and Research (MIUR) under the flagship InterOmics project and by the Foundation for Celiac Disease, has revealed that the risk of developing the disease is related to the number of RNA molecules produced by the genes associated with celiac disease.
A new study conducted by National Research Council researchers is a step forward in determining the genetic susceptibility to autoimmune diseases. The study, recently published in The Journal of Autoimmunity, focused on celiac disease: a disease triggered, in genetically susceptible individuals, by an abnormal immune response to gluten. The study, coordinated by Giovanna del Pozzo, Institute of Genetics and Biophysics (IGB-CNR), and Carmen Gianfrani, Institute of Protein Biochemistry (IBP-CNR), was funded by the Ministry of Education, University and Research (MIUR) and by the Foundation for Celiac Disease.
Celiac disease is associated with the presence, in susceptible individuals, of specific genes. “95 percent of people with celiac disease have specific genes that are predisposing or associated with celiac disease risk, since they are associated with the onset of the immune response to wheat gluten” – explained Giovanna Del Pozzo from Igb-Cnr – “These genes are DQA1*05 and DQB1*02 of the HLA locus, both of which encode the DQ2.5 molecule that binds some gluten peptide sequences, which the organism of celiac patients recognizes as foreign thus activating the cells of the immune system”.
By analysing the immune response to gluten in relation to genetic risk, the CNR researchers found out why only some genes of the HLA chromosomal region are associated with predisposition to celiac disease. “The two genes associated with celiac disease risk produce high levels of RNA, higher than those produced by HLA genes not associated with celiac disease”, added the CNR researcher. The study revealed, therefore, that what counts in determining the susceptibility to develop celiac disease is not only the number of HLA genes involved but also the number of RNA molecules that they produce.
The results of the study can help identify more precisely the level of susceptibility to the disease in individuals at risk. As explained Gianfrani from Ibp-Cnr, “not only the determination of HLA risk genes but also expression levels may serve in the future to determine the extent of susceptibility to celiac disease. Moreover, our results represent an advance in the knowledge of the molecular mechanism behind other autoimmune disorders”.