Novel chymotrypsin C (CTRC) variant c.173C > T (p.T58M) in a case of late onset recurrent acute pancreatitis

Objectives Chymotrypsin C (CTRC) is a digestive enzyme produced by the pancreatic acini. Active CTRC inhibits early, intrapancreatic activation of trypsinogen and protects against the development of pancreatitis. Loss of function mutations that reduce secretion or impair catalytic activity of CTRC are associated with chronic pancreatitis. Some mutations of the CTRC gene induce endoplasmic reticulum (ER) stress that is a trypsin-independent pathway leading to pancreatitis. The Hungarian Pancreatic Study Group (HPSG) recruits patients with acute and chronic pancreatitis.
Source: Pancreatology - Category: Gastroenterology Authors: Tags: 4. Genetics in pancreatic diseases Source Type: research