Loss of complex O-glycosylation impairs exocrine pancreatic function and induces MODY8-like diabetes in mice

Exp Mol Med. 2018 Oct 10;50(10):1-13. doi: 10.1038/s12276-018-0157-3.

Abstract

Cosmc is ubiquitously expressed and acts as a specific molecular chaperone assisting the folding and stability of core 1 synthase. Thus, it plays a crucial role in the biosynthesis of O-linked glycosylation of proteins. Here, we show that ablation of Cosmc in the exocrine pancreas of mice causes expression of truncated O-glycans (Tn antigen), resulting in exocrine pancreatic insufficiency with decreased activities of digestive enzymes and diabetes. To understand the molecular causes of the pleiotropic phenotype, we used Vicia villosa agglutinin to enrich Tn antigen-modified proteins from Cosmc-KO pancreatic lysates and performed a proteomic analysis. Interestingly, a variety of proteins were identified, of which bile salt-activated lipase (also denoted carboxyl-ester lipase, Cel) was the most abundant. In humans, frameshift mutations in CEL cause maturity-onset diabetes of the young type 8 (MODY8), a monogenic syndrome of diabetes and pancreatic exocrine dysfunction. Here, we provide data suggesting that differentially O-glycosylated Cel could negatively affect beta cell function. Taken together, our findings demonstrate the importance of correct O-glycan formation for normal exocrine and endocrine pancreatic function, implying that aberrant O-glycans might be relevant for pathogenic mechanisms of the pancreas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cells, Cultured
  • Diabetes Mellitus, Type 2 / etiology*
  • Diabetes Mellitus, Type 2 / metabolism*
  • Disease Models, Animal
  • Glycosylation
  • Insulin-Secreting Cells / metabolism
  • Male
  • Mice
  • Mice, Knockout
  • Molecular Chaperones / genetics
  • Pancreas, Exocrine / metabolism*
  • Proteome
  • Proteomics / methods

Substances

  • Cosmc protein, mouse
  • Molecular Chaperones
  • Proteome

Supplementary concepts

  • Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction