| Theme | Molecular Medicine of Gastrointestinal Disorders : from Basics to Applications | |
|---|---|---|
| Title | Pancreatic Disease Molecular Mechanisms | |
| Publish Date | 2009/02 | |
| Author | Tooru Shimosegawa | Division of Gastroenterology, Tohoku University Graduate School of Medicine |
| Author | Kiyoshi Kume | Division of Gastroenterology, Tohoku University Graduate School of Medicine |
| Author | Shin Hamada | Division of Gastroenterology, Tohoku University Graduate School of Medicine |
| [ Summary ] | Recent research has uncovered several genetic mutations associated with chronic pancreatitis. First, a genetic basis for hereditary pancreatitis has been established through the identification of activating mutations in cationic trypsinogen genes (PRSS1). In addition, mutations in serine peptidase inhibitor, Kazal type 1 genes (SPINK1) have been reported in patients with idiopathic chronic pancreatitis. These findings highlight the relationship of a tightly regulated balance between activation or inactivation of trypsin within the pancreas to disease susceptibility or resistance. This article introduces newly identified pancreatitis-associated genes and their genetic contributions to pancreatitis or pancreatitis-related carcinogenesis. Patients with germline mutations ofPRSS1 or SPINK1 genes are considered to be at high risk in relationship to pancreatic cancer. Detailed analysis of these pancreatitis-associated gene mutations may provide diagnostic and clinical therapeutic strategies. | |