The SPINK in chronic pancreatitis: similar finds, different minds
Open Access
- 1 May 2002
- Vol. 50 (5) , 590-591
- https://doi.org/10.1136/gut.50.5.590
Abstract
SPINK mutations are strongly associated with chronic pancreatitis but may not cause the disease Student Mephistopheles “Yet in each word some concept there must be.” “Quite true! But don't torment yourself too anxiously; For at the point where concepts fail, At the right time a word is thrust in there. With words we fitly can our foes assail, With words a system we prepare, Words we quite fitly can believe, Nor from a word a mere iota thieve.” Johann Wolfgang Goethe; Faust I Approximately five decades ago it was recognised for the first time that chronic pancreatitis (CP) may cluster in selected families suggesting an inherited disorder in these patients.1 However, the underlying genetic defect remained obscure for a long time. The discovery of cationic trypsinogen ( PRSS1 ) mutations in CP families provided a first clue to the underlying disease mechanisms.2 Subsequent studies revealed that PRSS1 mutations are also present in patients with idiopathic CP. Recently, mutations in the serine protease inhibitor, Kazal type 1 ( SPINK1 ) gene, a pancreatic trypsin inhibitor, were identified as associated with idiopathic or hereditary CP: in 22 of 96 paediatric patients, a SPINK1 mutation was detected. In 18 patients, a substitution of asparagine by serine at codon 34 in exon 3 was found (N34S). Six patients were homozygous for this mutation.3 These findings suggest that pancreatitis may be the result of an imbalance of proteases and their inhibitors within the pancreatic parenchyma. In this issue of Gut , Threadgold and coworkers4 and Drenth and colleagues5 describe mutational studies of SPINK1 in two large series with different types of chronic pancreatitis [see pages 675 and 682]. Threadgold et …Keywords
This publication has 11 references indexed in Scilit:
- Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitisGut, 2002
- The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the diseaseGut, 2002
- Botulinum toxin in biowarfare.JAMA, 2001
- Mutation in the SPINK1 Trypsin Inhibitor Gene, Alcohol Use, and Chronic PancreatitisJAMA, 2001
- Gene Mutations in Children with Chronic PancreatitisPancreatology, 2001
- SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitisGastroenterology, 2000
- Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitisNature Genetics, 2000
- Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic PancreatitisNew England Journal of Medicine, 1998
- Mutations of the Cystic Fibrosis Gene in Patients with Chronic PancreatitisNew England Journal of Medicine, 1998
- Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen geneNature Genetics, 1996