Patients with carboxyl-ester lipase-maturity-onset diabetes of the young (CEL-MODY) display distinct disease stages toward the development of monogenic diabetes and exocrine pancreatic disease. The finding of differentially increased proteins, some related to MAPK signaling, in a discovery proteomics study of secretin-stimulated duodenal juice in three CEL-MODY patients, prompted us to monitor their abundance in an extensive number of CEL-MODY subjects at different disease stages and controls using targeted proteomics. In the current study, published in Journal of Proteome Research (January 2015), we demonstrated the feasibility of selected reaction monitoring assays to quantify protein levels in secretin-stimulated duodenal juice. Furthermore, we defined a set of five peptides for potential use as diagnostic tests in CEL-MODY patients. And finally, we proposed a further set of seven proteins with a likely pathogenic role in CEL-MODY disease progression.
The paper can be read here.