Serine protease inhibitor Kazal type 1 mutations and pancreatitis

Serine protease inhibitor Kazal type 1 is thought to play in important role in protecting the pancreas against excessive trypsinogen activation. Recent genetic studies have shown that mutations in the SPINK1 gene are associated with the development of acute and chronic pancreatitis. These findings further support the concept of intracellular trypsin activation as an initiating, and perhaps essential step in the development of acute and chronic pancreatitis This article focuses on the role of SPINK1 within the context of trypsin biology and trypsinogen gene mutations in hereditary pancreatitis and highlights the insights into the development of acute and chronic pancreatitis gained from recent investigations of the SPINK1 gene. This article summarizes the current knowledge of the phenotypic expression of pancreatitis with SPINK1 mutations and reports the current limitations in understanding the role of SPINK1 mutations in chronic pancreatitis.