Medical Genetics - V. M. Zaporozhan 2005

Multifactorial Diseases
Genetics of Certain Common Multifactorial Diseases
Chronic Pancreatitis

Genetic predisposition to chronic pancreatitis is associated with Mutations in the cationic trypsinogen Gene (PRSS1, 7q35) and the Serine protease inhibitor Kazal type 1 gene (SPINK1, 5q32). SPINK1 is a small peptide whose function is the physiological inhibition of Trypsin. It is produced by pancreatic Cells along with trypsin in a 1:5 ratio. When intrapancreatic Activation of Trypsinogen occurs and The process of pancreatic autolysis is triggered, the normal form of the SPINK1 protein is capable of inhibiting up to 20% of trypsin. If the protein is inactive due to a mutation or if trypsin activation is more intense, a second line of defense is engaged—the Cleavage of trypsin. In the case of the R122H trypsinogen gene mutation (substitution of Arginine for Histidine at position 122), this defense mechanism fails, triggering the destruction of pancreatic cells and The Development of pancreatitis.



Last update: 11/08/2026

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