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CURRENT ISSUEMINERVA GASTROENTEROLOGICA E DIETOLOGICA

A Journal on Gastroenterology, Nutrition and Dietetics

Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Scopus, Emerging Sources Citation Index

Frequency: Quarterly

ISSN 1121-421X

Online ISSN 1827-1642

 

Minerva Gastroenterologica e Dietologica 2012 December;58(4):299-308

PANCREATIC DISEASES: A CLOSER LOOK 

Genetics of pancreatitis with a focus on the pancreatic ducts

Larusch J. 1, Whitcomb D. C. 1-3

1 Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh and UPMC, Pittsburgh, PA, USA;
2 Department of Human Genetics, University of Pittsburgh and UPMC, Pittsburgh, PA, USA;
3 Department of Cell Biology and , Molecular Physiology, University of Pittsburgh and UPMC, Pittsburgh, PA, USA

Genetic risk for acute pancreatitis (AP), recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) are increasingly recognized. The exocrine pancreas is composed of both acinar cells and duct cells, with genetic factors associated with AP, RAP and CP linked to one cell type or the other. Increased susceptibility to pancreatitis occurs when the normal physiological mechanisms that allow the pancreas to respond to common stresses or injury are altered. Currently, most our knowledge about genetics focuses on three genes that play critical roles in pancreatic function (PRSS1, CFTR, SPINK1) such that isolated defects lead to disease. However, recent data suggest that more complex combination of genetic and environmental factors are also as important, or more important than Mendelian genetic risk. Understanding of complex interactions requires modeling of these factors so that the response to stresses or injury can be simulated and critical interactions understood. A simple duct cell model is given to illustration the relationship between CFTR, CASR, aquaporins, claudins, and SPINK1, and how they interact. The role of CFTR variants in pancreatic diseases is then discussed.

language: English


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