Identification of the novel pancreatitis-related gene

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K15916
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Gastroenterology
• Research Institution: Tohoku University
• Principal Investigator: Nakano Eriko 東北大学, 医学系研究科, 大学院非常勤講師 (90779729)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: 膵炎

Outline of Final Research Achievements

This research project identified various novel mutations in the newly identified pancreatitis-associated gene in patients with early onset chronic pancreatitis. These mutations include missense mutations, nonsense mutations and frameshift mutations, suggesting possible contribution of loss-of-function to pancreatitis development. Database analysis also indicated loss-of-function due to these mutations. Part of these mutants revealed decreased protein expression level or attenuated function of gene product, suggesting relationship between these mutations and pancreatitis.

Free Research Field

消化器内科

Academic Significance and Societal Importance of the Research Achievements

本研究では新たな膵炎関連遺伝子において多数の新規変異が同定された。同遺伝子の機能喪失が膵炎発症につながるメカニズムは未解明であり、新たな発症機序解明の糸口となる一連の結果は意義深いものと考えられる。