Diagnosis of inflammatory bowel disease: Potential role of molecular biometrics

Abstract

Accurate diagnosis of predominantly colonic inflammatory bowel disease (IBD) is not possible in 30% of patients. For decades, scientists have worked to find a solution to improve diagnostic accuracy for IBD, encompassing Crohn’s colitis and ulcerative colitis. Evaluating protein patterns in surgical pathology colectomy specimens of colonic mucosal and submucosal compartments, individually, has potential for diagnostic medicine by identifying integrally independent, phenotype-specific cellular and molecular characteristics. Mass spectrometry (MS) and imaging (I) MS are analytical technologies that directly measure molecular species in clinical specimens, contributing to the in-depth understanding of biological molecules. The biometric-system complexity and functional diversity is well suited to proteomic and diagnostic studies. The direct analysis of cells and tissues by Matrix-Assisted-Laser Desorption/Ionization (MALDI) MS/IMS has relevant medical diagnostic potential. MALDI-MS/IMS detection generates molecular signatures obtained from specific cell types within tissue sections. Herein discussed is a perspective on the use of MALDI-MS/IMS and bioinformatics technologies for detection of molecular-biometric patterns and identification of differentiating proteins. I also discuss a perspective on the global challenge of transferring technologies to clinical laboratories dealing with IBD issues. The significance of serologic-immunometric advances is also discussed.

Keywords: Inflammatory bowel disease; Diagnosis; Advances and challenges; MALDI-MS/IMS; Molecular biometrics; Immunometrics

Core tip: Pouch surgery (the restorative proctocolectomy and ileal pouch-anal anastomosis for the curative surgical treatment of ulcerative colitis and familial adenomatous polyposis) replaces the colon and rectum after proctocolectomy with a pouch constructed from the distal small bowel (ileum) and sutured to the anal canal above the dentate/pectinate line preserving the anal sphincters. The operation restores gut continuity, defecation, deferral, and discrimination, if the diagnosis is correct, which is unpredictable in 30% of the colonic-inflammatory bowel disease-patients. Mass spectrometry and imaging mass spectrometry are groundbreaking, non-invasive analytical technologies with the ability to directly measure individual molecular species in complex clinical specimens. These technologies provide quantitative and qualitative analysis of cellular systems, and allow differentiation between disease and normal molecules from the same organ. These characteristics offer diagnostic and prognostic value for clinical medicine.