Our results indicate that mutations in SPINK1 are associated with chronic pancreatitis.read more read lessĪbstract: The use of so-called protein scaffolds has recently attracted considerable attention in biochemistry in the context of generating novel types of ligand receptors for various applications in research and medicine. We also found four other sequence variants. In 18 patients, 6 of whom were homozygous, we detected a missense mutation of codon 34 (N34S). We found mutations in 23% of the patients. Here we analysed 96 unrelated children and adolescents with CP for mutations in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), a pancreatic trypsin inhibitor. Most patients with idiopathic or hereditary CP, however, do not have mutations in PRSS1 (ref. It is thought that these mutations result in increased trypsin activity within the pancreatic parenchyma. Several studies have demonstrated mutations in the cationic trypsinogen gene (PRSS1) in patients with hereditary or idiopathic CP. Pathophysiologically, autodigestion and inflammation may be caused by either increased proteolytic activity or decreased protease inhibition. In approximately one-third of all cases, no aetiological factor can be found, and these patients are classified as having idiopathic disease. Abstract: Chronic pancreatitis (CP) is a continuing or relapsing inflammatory disease of the pancreas.
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