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Evidence for a common mutation in hereditary pancreatitis
S M Bell1, C Bennett, A F Markham
1Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
Molecular Pathology : MP
|August 26, 1998
Summary
A common mutation in the cationic trypsinogen gene causes hereditary pancreatitis, a disorder characterized by recurrent abdominal pain. This genetic alteration disrupts trypsin inactivation, leading to pancreatic autodigestion.
Area of Science:
- Genetics
- Gastroenterology
- Biochemistry
Background:
- Hereditary pancreatitis is an autosomal dominant disorder with incomplete penetrance.
- It presents with recurrent severe abdominal pain, often in childhood.
- A mutation in the cationic trypsinogen gene has been recently identified as a cause.
Purpose of the Study:
- To investigate the genetic basis of hereditary pancreatitis in a UK family.
- To determine if the previously identified mutation at residue 117 is common in hereditary pancreatitis.
Main Methods:
- Molecular analysis of the trypsinogen gene.
- Genetic sequencing to identify mutations.
Main Results:
- A G to A mutation at residue 117 of the trypsinogen gene was identified in the UK family.
- This is the same mutation previously found in US and Italian families.
Conclusions:
- The identified mutation at residue 117 is likely a common cause of hereditary pancreatitis.
- This mutation may disrupt trypsin inactivation, leading to pancreatic autodigestion.