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Genetic and biochemical characterization of the E32del polymorphism in human mesotrypsinogen
Zsófia Nemoda1, Niels Teich, Christin Hugenberg
1Department of Molecular and Cell Biology, Boston University Goldman School of Dental Medicine, Boston, MA, USA.
Background/Aims:
Mesotrypsin is a minor pancreatic digestive enzyme that degrades dietary trypsin inhibitors in the gut. In this study, we tested the hypothesis that the E32del genetic variant of mesotrypsin might represent a risk factor for the development of chronic pancreatitis, as a result of enhanced degradation of pancreatic secretory trypsin inhibitor.
Methods:
We screened 97 German patients with chronic pancreatitis of alcoholic etiology and 109 healthy controls for the presence of the E32del variant and characterized the biochemical properties of E32del mesotrypsinogen.
Results:
Higher allele frequency of the E32del variant was detected in the control population (25.7 vs. 18.0%), but the difference was not significant (p = 0.062). Recombinant E32del mesotrypsin exhibited normal catalytic activity, characteristic inhibitor resistance and inability to activate pancreatic zymogens. Degradation of trypsin inhibitors was unaffected by the E32del genotype. Interestingly, mesotrypsinogen-E32del was biochemically distinguishable from mesotrypsinogen by its faster activation with bovine enterokinase, while activation by human enterokinase, trypsin or cathepsin B was unchanged.
Conclusion:
The results classify E32del mesotrypsinogen as a frequent polymorphic variant, which is not associated with chronic alcoholic pancreatitis.
Insights
The E32del genetic variant of mesotrypsinogen, a pancreatic enzyme, is common but not linked to alcoholic chronic pancreatitis. Its biochemical properties, including trypsin inhibitor degradation, were unaffected by this variant.
Area of Science:
- Gastroenterology
- Genetics
- Biochemistry
Background:
- Mesotrypsin is a pancreatic enzyme that degrades dietary trypsin inhibitors.
- The E32del genetic variant of mesotrypsinogen was investigated for its potential role in chronic pancreatitis.
Purpose of the Study:
- To test if the E32del mesotrypsinogen variant is a risk factor for alcoholic chronic pancreatitis.
- To characterize the biochemical properties of E32del mesotrypsinogen.
Main Methods:
- Screening of 97 German patients with alcoholic chronic pancreatitis and 109 healthy controls for the E32del variant.
- Biochemical characterization of recombinant E32del mesotrypsinogen.
Main Results:
- The E32del variant showed a higher allele frequency in controls (25.7%) versus patients (18.0%), though not statistically significant (p=0.062).
- E32del mesotrypsin exhibited normal activity, inhibitor resistance, and did not affect trypsin inhibitor degradation.
- Mesotrypsinogen-E32del demonstrated faster activation by bovine enterokinase but unchanged activation by other enzymes.
Conclusions:
- E32del mesotrypsinogen is a frequent polymorphic variant.
- This variant is not associated with chronic alcoholic pancreatitis.
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