Gene Causing Chronic Pancreatitis Discovered

Doctors at the city-based Asian Institute of Gastroenterology(AIG) led by its director D Nageshwar Reddy and a team of scientists at the Centre for Cellular and Molecular Biology (CCMB) led by senior medical geneticist G R Chandak have discovered a new gene mutation that is causing chronic pancreatitis in the country, particularly in the south India.

Chronic pancreatitis is the damage caused to pancreatic gland which is a very important gland responsible for digesting the food and for producing insulin whose deficiency leads to diabetes.

Though pancreatitis is a major disease both in India and advanced countries, gastroenterologists have found that the type of pancreatitis in India and western countries are totally different, according to Nageshwar Reddy and Chandak.

They said that alcoholism was responsible for more than 80 per cent of the patients with chronic pancreatitis in the western world, whereas it was mainly due to a type of idiopathic pancreatitis known as Tropical Calcific Pancreatitis (TCP) in our country.

TCP is associated with abdominal pain in childhood (10 years), diabetes in adolescence (20 years) and death usually occurs at the age of 40. It is also associated with complications like pancreatic carcinoma, uncontrolled diabetes and kidney failure.

Nageshwar Reddy said that TCP is predominantly present in south India and some places in Orissa.

The researchers through a well-planned clinical and genetic study on 120 patients and 290 healthy volunteers to understand the genetic base of the disease have found that TCP with or without diabetes has abnormal mutation in a gene called SPINK- I.

The SPINK-I gene produces a specific protein called pancreatic secretory trypsin inhibitor (PSTI), which inhibits the normally activated trypsinogen inside the pancreas and thus prevents the autodigestion of pancreas.

When the protein becomes abnormal due to mutations in the SPINK-I gene, the trypsin starts digestion of pancreas, leading to recurrent attacks of pancreatitis.

The research findings were published in the Journal of Medical Genetics last year and were confirmed by several research groups across the world, Reddy said.