Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis
نویسندگان
چکیده
منابع مشابه
From acute to chronic pancreatitis: the role of mutations in the pancreatic secretory trypsin inhibitor gene.
Pancreatic secretory trypsin inhibitor (PSTI) is a potent natural inhibitor of trypsin. We proposed the hypothesis that, if the function of the PSTI is impaired by its genetic mutation, trypsin may easily promote autodigestion causing pancreatitis and we performed a mutational analysis of the PSTI gene in patients with pancreatitis. Two exonic mutations (N34S and R67C) were thought to be associ...
متن کاملAbsence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.
BACKGROUND AND AIMS Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1); PRSS1) gene are causally associated with recurrent acute and chronic pancreatitis. We investigated whether mutations in the PRSS1 gene are associated with hereditary and non-hereditary pancreatitis. As a modifier role has been proposed for trypsin inhibitor (serine protease inhibitor, Kazal type I; SPINK...
متن کاملMutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
Pancreatitis is a global health care problem with varied aetiologies. Alcoholism is responsible in the majority of patients while other causes, such as heredity, gallstones, hyperlipidaemia, hypercalcaemia, and idiopathic pancreatitis, are relatively rare. 2 The causal factor in 20-30% of such cases is still not known and they fall into the category of idiopathic chronic pancreatitis (ICP). 2 A...
متن کاملLETTER TO JMG Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis
Pancreatitis is a global health care problem with varied aetiologies. Alcoholism is responsible in the majority of patients while other causes, such as heredity, gallstones, hyperlipidaemia, hypercalcaemia, and idiopathic pancreatitis, are relatively rare. 2 The causal factor in 20-30% of such cases is still not known and they fall into the category of idiopathic chronic pancreatitis (ICP). 2 A...
متن کاملTwo SPINK1 Mutations Induce Early-Onset Severe Chronic Pancreatitis
The SPINK1 protein is a potent antiprotease that can inactivate any intrapancreatic trypsin activity that would otherwise induce autodigestion of the pancreas. SPINK1 mutations have been recognized to be associated with chronic pancreatitis in patients without a family history of pancreatitis. We here describe the case of a 24-year-old woman referred to our service for recurrent abdominal pain ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Mutation
سال: 2004
ISSN: 1059-7794
DOI: 10.1002/humu.9212