Novel mutations associated with pancreatitis in Indians

Thu 24 May 2012

In a new study, scientists have found novel mutations to be associated with chronic pancreatitis (inflammation of pancreas), reinforcing earlier observations that genetic susceptibility for the disease was different in Indians as compared to Americans and Europeans.

The study was conducted by the Centre for Cellular and Molecular Biology, Hyderabad in collaboration with Asian Healthcare Foundation, Asian Institute of Gastroenterology, Department of Gastroenterology, SCB Medical College, Cuttack and Department of Gastroenterology, Medical College, Calicut.

It was found that unlike in Americans and Europeans, mutations in trypsinogen, a gut enzyme, which digests the pancreas and causes pancreatitis, was not doing so in Indians. Rather, mutations in an inhibitor or Cathepsin B (CTSB) which control the activation of pancreas, were found to be responsible for the condition among Indians.

The clinical picture of the disease too was different as it gets presented five to 10 years earlier among Indians as compared to those in the Western countries.

Similar was the case with diabetes, abdominal obesity, high blood pressure and cataract, all of which get manifested five to ten years earlier in Indians than in other groups.

The study brought out two important issues — that the genetic basis of diseases in Indians was different and needed to be investigated rather than extrapolating results from international studies.

Secondly, identification of these mutations would help in susceptibility screening and help develop therapeutic regimens or unique drug targets for Indians

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