New chronic pancreatitis gene identified
doi:10.1038/nindia.2013.117 Published online 30 August 2013
A consortium of global researchers, including Indian, have identified a new pancreatic digestive enzyme carboxypeptidase A1 (CPA1) as a causative gene of juvenile pancreatitis, an inflammatory disorder of the pancreas .
The researchers have also described a new mechanism responsible for development of pancreatitis in humans. They say it is endoplasmic reticulum (ER) stress rather than elevated trypsin activity (as earlier thought) which makes for an increased risk of chronic pancreatitis.
The team found that many individuals with chronic pancreatitis do not carry mutations in any of the known susceptibility genes, suggesting the involvement of other yet unidentified genes. Therefore, they began investigating the role of CPA1, encoding carboxypeptidaseA, in nonalcoholic chronic pancreatitis patients and controls from Germany, Europe, India and Japan.
Through genetic sequencing, the researchers identified functionally impaired CPA1 variants in both European and non-European samples to establish its global role in the pathogenesis of chronic pancreatitis.
The study would help develop new treatments and further elucidation on the pathogenesis of pancreatitis.
- Witt, H. et al. Variants in CPA1 are strongly associated with early onset chronic pancreatitis. Nat. Genet. (2013) doi: 10.1038/ng.2730