Pathophysiology of SPINK mutations in pancreatic development and disease.

Abstract

The endogenous pancreatic trypsin inhibitor, SPINK, is believed to limit enzyme activity in the pancreas and reduce the risk of pancreatitis. Recently, mutations in the SPINK1 gene have been associated with development of both acute and chronic pancreatitis. In most patients with SPINK1 mutations, the genetic variants do not cause the disease independently, but may act in concert with other genetic or environmental factors. Recent studies, using mice in which the trypsin inhibitor gene has been deleted or overexpressed, provide novel insights into the role of SPINK in pancreatic development and pancreatitis.

• Authors: Rodger A Liddle
• Journal: Endocrinology and metabolism clinics of North America (Endocrinol Metab Clin North Am) Vol. 35 Issue 2 Pg. 345-56, x (Jun 2006) ISSN: 0889-8529 [Print] United States
• PMID: 16632097 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Review)

Chemical References

• Carrier Proteins
• SPINK1 protein, human
• Cystic Fibrosis Transmembrane Conductance Regulator
• Trypsin Inhibitor, Kazal Pancreatic
• Trypsinogen

Topics

• Animals
• Carrier Proteins (genetics)
• Cystic Fibrosis Transmembrane Conductance Regulator (genetics)
• Enzyme Activation
• Genetic Predisposition to Disease
• Humans
• Mice
• Mice, Knockout
• Pancreatitis (enzymology, genetics)
• Point Mutation
• Trypsin Inhibitor, Kazal Pancreatic
• Trypsinogen (metabolism)