Celiac disease is a complex condition; routinely treated by means of a strict gluten free diet; which is one of the diagnostic challenges of this disease is that patients need to be consuming gluten; so that a correct diagnosis by means of doing endoscopy.
A biomarker for diagnosing Celiac disease in people on a gluten free diet; nowadays there are more and more people to eliminate gluten from their diets before seeing a specialist; and this makes it tremendously difficult to reliably diagnose the disease. The self diagnosis of gluten intolerance is a growing global phenomenon as it reaches 12-13 % of the general population.
Celiac disease in people
As CeD is a common, immune mediated enteropathy; where alleles encoding Human Leukocyte Antigen (HLA)-DQ2 and -DQ8 molecules account for 40% of disease heritability; The main environmental trigger of the disorder is dietary gluten and being on a gluten containing diet is necessary for a correct diagnosis of the disease.
But the biomarker that could enable celiac disease to be diagnosed in the blood of people on a gluten free diet. In this work, though an analysis of applied statistics; the researchers have discovered that the relative expression of the isoforms of the UBE2L3 gene in the blood makes; it possible to distinguish with 100 % sensitivity and specificity celiac patients on a gluten-free diet.
The UPV/EHU has patented this discovery so that in the future it can be transferred to companies interested in marketing this new diagnostic system; Other common disorders also present similar diagnostic challenges, like severe reactions during provocation with the causal compound in drug allergy or difficulties toasses airflow limitation in childhood asthma.
A genetic, constitutive biomarker present also when the disease triggering insult is absent would be extremely useful for the diagnosis of these type of conditions; According to research; UBE2L3 is an example of how the transfer from basic Genomics research to clinical practice is possible;and could have a huge impact on the routine diagnosis of celiac disease.