Genetic testing is useful in the diagnosis of nonhereditary pancreatic conditions: SPINK1/PSTI GENE MUTATIONS Part 1

SPINK1 function

SPINK1/PSTI GENE MUTATIONS Part 1PST1, which is also known by its UniGene name, SP1NK1 , is a 56-amino acid peptide that specifically inhibits trypsin by physically blocking the active site. SP1NK1 is synthesized by pancreatic acinar cells together with trypsinogen and is located in the same zymogen granules. In the mechanistic models of pancreatic acinar cell protection, SP1NK1 acts as the first line of defence against prematurely activated trypsinogen. Because only a limited amount of SP1NK1 is produced, however, it is capable of inhibiting only approximately 20% of the trypsin that could potentially be formed. You will soon see how easy it is to start the treatment if you have a reliable pharmacy offering yasmin birth for sale or any other medications you may need for the specific medical issue you may have that requires treatment.

SPINK1 mutations

Because gain-of-function mutations of the trypsin molecule are associated with acute and chronic pancreatitis, it was hypothesized that loss of trypsin inhibitor capacity might have similar effects. By 2000, it was appreciated that SP1NK1 mutations indeed predispose to chronic pancreatitis. This extremely important discovery was made by screening a large, well-defined population for mutations in candidate genes. SP1NK1 N34S and P55S mutations are relatively prevalent, being present in roughly 2% of the general population. In addition, a number of intron mutations, which have not been fully characterized, occur in patients with pancreatitis (unpublished observations). SP1NK1 mutations occur in families of pancreatitis patients who do not have trypsinogen mutations, but the mutations do not consistently segregate with the disease. Thus, SP1NK1 mutations do not cause hereditary pancreatitis in an autosomal dominant pattern. Proof of the role of SP1NK1 mutations, however, is the finding that 23% to 25% of patients with idiopathic chronic pancreatitis harbour them.

This entry was posted in Pancreatic and tagged Cystic fibrosis transmembrane conductance regulator, Kazal type 1, Pancreatic secretory trypsin inhibitor, Serine protease inhibitor, Trypsin, Trypsinogen.