| Theme |
Chronic Pancreatitis |
| Title |
Genetic Abnormalities in Patients with Chronic Pancreatitis |
| Author |
Atsushi Masamune |
Division of Gastroenterology, Tohoku University Graduate School of Medicine |
| Author |
Eriko Nakano |
Division of Gastroenterology, Tohoku University Graduate School of Medicine |
| Author |
Tooru Shimosegawa |
Division of Gastroenterology, Tohoku University Graduate School of Medicine |
| [ Summary ] |
Because the identification of mutations in the cationic trypsinogen (PRSS1) gene has come to be seen as a causative factor for as hereditary pancreatitis, we have made great progress in our understanding of the genetics of pancreatitis. Hereditary pancreatitis is a rare clinical entity. A nationwide survey tracked 171 patients (96 males and 75 females) with hereditary pancreatitis in 59 families in Japan. It was established that mutations in the genes related to the activation or deactivation of trypsinogens, such as PRSS1 and SPINK1, contribute to the development of pancreatitis. About 70 % of the families with hereditary pancreatitis prove positive for mutations in the PRSS1 and/or SPINK1 genes. However, the responsible genetic mutations in the remaining 30％ of the families remain unknown. Mutations in the CTRC and PRSS2 genes may play minor roles. In addition, recent studies have shown that stress in the endoplasmic reticula, caused by the mutations in the CPA1 gene, may be novel mechanisms responsible for pancreatitis. Chronic pancreatitis represents a family of truly complex diseases with interactions and synergy between multiple genetic and environmental factors. Genetic analysis may provide clinicians with important information for the management of patients with chronic pancreatitis. |