The common truncation variant p.W358X of the PNLIPRP2 lipase is not associated with chronic pancreatitis

Objectives Pancreatic Lipase-Related Protein 2 (PNLIPRP2) is a lesser lipase isoform which can digest long chain triglycerides, diglycerides and monoglycerides. In vitro experiments showed that the common nonsense variant c.1074G>A (p.W358X) causes the formation of a shorter misfolded protein that is not secreted well but induces endoplasmic reticulum (ER) stress. ER stress is a known susceptibility factor for chronic pancreatitis, suggesting that the p.W358X mutation of the PNLIPRP2 gene might contribute the development of pancreatitis.

Source: Pancreatology - June 1, 2018 Category: Gastroenterology Authors: Zsofia Gabriella Pesei, Balazs Csaba Nemeth, Eszter Hegyi, Andrea Szentesi, Aron Vince, Dezso Kelemen, Peter Hegyi, Miklos Sahin-Toth Tags: 4. Genetics in pancreatic diseases Source Type: research