Gene mutations causing pancreatitis discovered

Hyderabad: Scientists from the Centre for Cellular and Molecular Biology (CCMB) and the Asian Institute of Gastroenterology (AIG) here, in collaboration with a group of scientists from abroad, have found a new `gene-association` with the onset of chronic pancreatitis.

"The scientists found that a few mutations in a gene called CPA1, that makes an enzyme called carboxipeptidase-A1, are associated with the disease pancreatitis," CCMB Director Ch Mohan Rao said at a press conference.

"These mutations make the enzyme fold incorrectly; misfolded proteins lose activity. In addition, misfolded or unfolded proteins cause stress in the cells. Cells respond to this stress by producing different molecules, either to help the protein to fold or to degrade it. Such responses might cause damage to pancreas leading to pancreatitis," he said.

Pancreas, a small organ in the human body, is responsible for production of insulin that maintains sugar levels. In addition to this, pancreas also produces enzymes that are required to digest food. Sometimes, inflammation of pancreas (pancreatitis) can lead to severe complications and if untreated, it can lead to cancer of pancreas as well, he said.

Chronic pancreatitis is more prevalent in south India and alcoholism and gall stones are the primary causes. However it is found to be occurring even otherwise, AIG Chairman D Nageshwar Reddy said.

The research has shown that the disease is caused by gene mutations, he said.

Though it will take some more time to prepare the complete picture of genetic susceptibility of Tropical Calcific Pancreatitis (TCP), the CCMB-AIG researchers are confident that the study has the potential for development of a genetic screening test for susceptibility to chronic pancreatitis among the Indian population.

The study will be appearing in the prestigious international journal `Nature Genetics`.