UBE2L3 Gene Expression Quantification for Celiac Diagnosis
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Solution Overview
Problem
Current diagnostic methods for celiac disease are invasive and lack reliable tools for monitoring treatment efficacy, as they rely heavily on gluten provocation and histological analysis of duodenal biopsies, which are not feasible for routine monitoring and do not accurately reflect intestinal integrity.
Innovation Solution
An in vitro method quantifying mRNA levels of the UBE2L3 gene isoform 2 and total mRNA, using specific probes for exons 4 and 5, to diagnose celiac disease, providing a non-invasive and more informative approach.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If invasive methods (biopsies) are used for diagnosis, then diagnostic accuracy is improved, but patient comfort and ease of operation deteriorate
Solution Approach 1:
The patent extracts the diagnostic marker (UBE2L3 gene expression) from the complex invasive biopsy procedure and enables detection through simple blood sampling. This separates the essential diagnostic information from the harmful invasive aspect, allowing accurate diagnosis without intestinal biopsy.
Solution Approach 2:
The patent uses blood as an intermediary medium to detect celiac disease. Instead of directly analyzing intestinal tissue through biopsy, the method detects UBE2L3 gene expression patterns in blood, which serve as a mediator that reflects intestinal pathology without requiring direct tissue sampling.
2Measurement precision
If histological analysis of duodenal biopsies is used for monitoring treatment efficacy, then treatment monitoring accuracy is improved, but invasiveness and complexity increase
Solution Approach 1:
The patent extracts the monitoring function from the invasive biopsy procedure by identifying UBE2L3 gene expression as a non-invasive marker that reflects intestinal integrity and treatment response. This allows continuous monitoring through simple blood tests without repeated biopsies.
Solution Approach 2:
The patent replaces the mechanical invasive biopsy system with a molecular detection system. Instead of physically removing and analyzing intestinal tissue, the method uses molecular biology techniques to detect gene expression patterns in blood, simplifying the monitoring process.
3Ease of operation
If serum markers (anti-gliadin antibodies) are analyzed for diagnosis, then non-invasiveness is improved, but reliability and measurement precision deteriorate
Solution Approach 1:
The patent changes the diagnostic parameter from serum antibody levels to UBE2L3 gene expression patterns in blood. This parameter change provides both non-invasive sampling and superior diagnostic reliability, as gene expression patterns offer more specific and sensitive indicators of celiac disease pathophysiology.
4Reliability
If gluten provocation is used for diagnosis, then diagnostic capability is improved, but harmful factors and ethical concerns increase
Solution Approach 1:
The patent performs preliminary detection of UBE2L3 gene expression patterns in blood before any gluten provocation is needed. This preliminary action identifies celiac disease status without requiring active gluten challenge, eliminating the harmful effects of gluten provocation while maintaining diagnostic reliability.
Data Source
AI summary
The present invention relates to methods for the diagnosis of celiac disease based on the quantification of the expression level of the UBE2L3 gene, as well as of the relative expression of isoform 2 of the UBE2L3 gene with respect to the total expression of the said gene. Likewise, the invention relates to kits with the means needed to perform the diagnosis according to the methods of the invention.