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SPINK1Serine Protease Inhibitor, Kazal Type 1
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SPINK1. SPINK1 acts as a protective protein against trypsinogen activation by inhibiting trypsin with a specific target substrate.
Physiologically SPINK1 is secreted by pancreatic acinar cells serving as a first line of defense against premature trypsinogen activation in the acini and the pancreatic ducts.
Protease serine 1 (PRSS1, OMIM 276000), cystic fibrosis transmembrane conductance regulator (CFTR, OMIM 602421), chymotrypsin C (CTRC, OMIM 601405), and SPINK1 exonic mutation are the most frequently detected gene mutations in Caucasian population [13].
Mechanisms by which SPINK1 could exert alternative functions were suggested by its structural similarities with epidermal growth factor (EGF): a 50% sequence homology, a molecular size of approximately 6 kDa, and the presence of 3 intrachain disulfide bridges (2).
(89-92) Variants in SPINK1 are associated with a moderate increased risk for pancreatitis.
Several genetic mutations, including human cationic trypsinogen (PRSS) 1, PRSS2, serine protease inhibitor Kazal type 1 gene (SPINK1), chymotrypsinogen C gene (CTRC), transmembrane conductance regulator gene (CFTR), and calcium-sensing receptor (CASR), have been noted as risk factors [2, 6].
Unlike trypsin 1 and 2, trypsin 3 is not inhibited by the pancreatic secretary trypsin inhibitor (PSTI, also called SPINK1 and TATI), which it actually can digest.
Examples of familial syndromes associated with pancreatic cancer include Li-Fraumeni (TP53), BRCA2 familial breast cancer syndrome, Peutz-Jeghers (STK11/LKB1), familial atypical mole and melanoma syndrome (CDKN2A), ataxia telangiectasia (ATM), and hereditary pancreatitis (PRSS1 and SPINK1).
Mutations in the high penetrance genes such as BRCA2, PALB2, p16/CDKN2A, PRSS1, SPINK1, and STK11 correlate with a very high lifetime risk of developing pancreatic cancer and may cause as many as 10% of pancreatic cancers in the US [19].
(58) Germline mutations in the cationic trypsinogen gene (PRSS1) have been associated with an autosomal dominant form of hereditary pancreatitis, while germline mutations in the serine protease inhibitor gene (SPINK1) have been associated with an autosomal recessive form of hereditary pancreatitis.
In humans, the genes PRSS1 [6] [protease, serine, 1 (trypsin 1)], SPINK1 (serine peptidase inhibitor, Kazal type 1) (14), and CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] (15-17) and genes encoding factors that modulate the inflammatory response to pancreatic injury, such as TNF [tumor necrosis factor (TNF superfamily, member 2)] (18), are reportedly associated with acute recurrent pancreatitis (19) and chronic pancreatitis (20).
For example, direct sequencing analysis for the detection of mutations in the genes coding for cationic trypsinogen (PRSS1) or trypsin inhibitor (serine protease inhibitor, Kazal type I; SPINK1) in children with chronic pancreatitis (6, 7), mutations in the cystic fibrosis gene (8-10), or SNPs in the gene encoding coagulation factor VII (11-13) can have direct therapeutic consequences.