For the first time, a novel gene mutation has been found as a cause for the unexplained gastrointestinal disease in the country, especially among youngsters after they take their meals. A joint research by the scientists of the Centre for Cellular and Molecular Biology (CCMB) and doctors of the Asian Institute of Gastroenterology (AIG) has found chronic pancreatitis is the damage caused to the pancreatic gland, which is responsible for digesting the food and for producing insulin whose deficiency leads to diabetes. The research team found that the chronic disease could be due to the mutation of a gene called SPINK-1 and if left untreated it could lead to a major disease, Tropical Calcific Pancreatitis (TCP).

The findings had created interest among scientists all over the world after it was published in the prestigious Journal of Medical Genetics and set the whole field of pathology and genetics into a new dimension of discovery, according to Dr Nageshwar Reddy, Director of AIG, and Dr G R Chandak, who headed the research team from CCMB.

Addressing newsmen about the new discovery, they said Chronic Pancreatitis was prevalent both in the advanced countries and in India. However, the types of pancreatitis patients found in India and the western countries were totally different. They said alcoholism was responsible for more than 80 % of the cases in the western countries whereas it was mainly due to diet, lifestyle and environment that a type of idiopathic pancreatitis, known as Tropical Calcific Pancreatitis, was caused in our country.

The disease is mostly prevalent in the southern states of Kerala, Tamil Nadu, Andhra Pradesh, and parts of Orissa. The incidence has been reported to be as high as one in 1000 in certain parts of Kerala like Kottayam and Quilon district where the people take tapioca as a staple food. Most of these patients complain of pain in abdomen in childhood (10 years), diabetes mellitus in adolescence (20 years) and usually die in early adulthood (40 years). The disease is associated with complications like pancreatic carcinoma (cancer), uncontrolled diabetes mellitus and kidney failure.

The exact cause of this disease was not known till now and several factors, including diet like cassava, jowar ingestion and cooking in kerosene and firewood had been hypothesized. But all these did not have any scientific bases.

The CCMB and AIG research team, through a well-planned study on 120 patients and 290 healthy volunteers to understand the genetic base of the disease, found that TCP with or without diabetes has abnormal mutation in a gene called SPINK-1.

This gene produces a specific protein called pancreatic secretory tryspin inhibitor (PTSI), 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-1 gene, it can lead to recurrent attacks of pancreatitis.

The study has important implications in terms of the following: The genetic basis Tropical Calcific Pancreatitis, a disease specific to Tropics, has been established for the first time; the genetic basis of the disease is different from the commonly occurring pancreatitis due to alcohol abuse in the west; the gene could be manipulated in such patients as well as the unaffected relatives of patients for preventive strategies.

Now that the gene had been identified, the patients could be screened and treated at an early stage with medicine, endoscope etc. so that the course of the disease could be modified and arrested. Dr Chandok said further studies on the role of the gene could lead to important drug discoveries in diabetes and pancreatic diseases. He said it was important that since the genetic bases for several Indian diseases could be different from that in the west, the diseases in our country were investigated in India and the blood samples were not sent abroad. The dependence on the west might not be useful at all times, he said.

The research was carried out from the CCMB side by Dr Chandok, Mohd Idris, Seema Bhaskar, Radhamani supported by Director Dr Lalji Singh and from the AIG side by Dr Nageshwar Reddy, Dr G V Rao and Dr PVJ Sriram.