1. Volume 150, Issue 7, Pages 1515-1518 (June 2016)
Lipase Genetic Variants in Chronic Pancreatitis: When the End Is Wrong, All’s Not Well 
Anders Molven 
Gastroenterology 
Volume 150, Issue 7, Pages (June 2016)
DOI: /j.gastro
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2. Figure 1
Suggested model for how aberrant C-termini of the digestive enzyme carboxyl-ester lipase (CEL) are involved in pancreatic disease. The end of the normal CEL protein (CEL-WT) usually consists of 16 segments of 11 amino acids each, forming a variable number of tandem repeat (VNTR) region. In the monogenic pancreatic disease CEL-MODY, a frame-shift mutation (arrowhead) leads to a new and different VNTR of 11 repeats. The resulting protein has a strong tendency to form intracellular and extracellular aggregates. The VNTR of the CEL-HYB1 variant contains only 3 repeats (bracket), encoded by the tail of a nearby CEL pseudogene that was recruited by genetic recombination. CEL-HYB1 is not secreted as efficiently as normal CEL and increases chronic pancreatitis risk. In CEL-HYB2, a premature stop-codon (pinhead) is present before the VNTR, resulting in nonsense-mediated messenger RNA decay and potentially reduced protein expression. This variant is not associated with chronic pancreatitis.
Gastroenterology  , DOI: ( /j.gastro )
Copyright © 2016 AGA Institute Terms and Conditions