Molecular Genetics of Chronic Pancreatitis

Abstract

Chronic pancreatitis is a progressive inflammatory condition of the pancreas that results in impairment of both exocrine and endocrine functions of the gland. The finding that a mutation in the cationic trypsinogen gene ( PRSS1 ) causes hereditary pancreatitis was a major breakthrough that stimulated intensive research into the genetics of chronic pancreatitis. Further disease‐causing mutations were identified in the PRSS1 gene, and mutations in novel genes ( SPINK1 , CFTR , CTRC , CASR ) have been described in patients with idiopathic chronic pancreatitis. Genetic and biochemical studies highlighted the importance of the tightly regulated balance between trypsin activation and inactivation in the pathogenesis of pancreatitis.