Indian mutation for chronic pancreatitis discovered

A team of scientists, led by G R Chandak from the Centre for Cellular and Molecular Biology (CCMB), and doctors D Nageshwar Reddy and G V Rao at the Asian Institute of Gastroenterology (AIG) has discovered a new gene-association with early onset of chronic pancreatitis.

In its global study involving Europeans and Asians to identify genes associated with chronic pancreatitis, CCMB sequenced carboxypeptidase A1 gene (CPA1) in approximately 300 TCP (tropics calcific pancreatitis) patients and normal subjects each.

"Interestingly, we identified one founder mutation in this gene in the Indian patients, which is different compared to Europeans and other Asians. The Indian mutation causes complete loss of function of the protein, which is involved in the degradation of trypsinogen (an inactive substance released by the pancreas into the duodenum to form trypsin). These observations stress on the important point that the pathway of development of chronic pancreatitis in Indians is different and hence the genetic testing for risk prediction would also be different," Ch Mohan Rao, director, CCMB, told reporters here today.

According to Reddy, the incidence of TCP is very high in the southern parts of India and also in Odisha.

With surveys showing that one in 10,000 have this type of pancreatitis. CCMB and AIG had embarked on this study 13 years ago and found that there is a strong genetic basis and a special combination of mutations that is specially associated with this type of TCP, he added.

On the possibility of this new discovery leading to development of new methods for genetic screening to take preventive measures, Reddy said they were not giving an open access as it was still in the research stage.

"Right now the treatment (including endoscopy, drug treatment etc) for TCP is being done at a late stage, where the success rate is 30-40 per cent. With this discovery, we will be able to modify the treatment at an early stage and increase the success rate to 95-100 per cent. We will require one more year to analyse the complete data and transform it into a clinical application," he said.