The Hindu : A novel gene mutation triggering pancreatitis

Online edition of India's National Newspaper
Sunday, Jun 01, 2003

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National

A novel gene mutation triggering pancreatitis

By Our Staff Reporter

HYDERABAD MAY 31. The Asian Institute of Gastroenterology and the Centre for Cellular and Molecular Biology (CCMB) on Saturday announced the discovery of a new gene mutation, SPINK 1, associated with chronic tropical pancreatitis, a disease predominant in the South.

The largest number of cases in the country is reported from Kerala, Andhra Pradesh, Karnataka, Tamil Nadu and Orissa.

In Andhra Pradesh it is prevalent in the Rayalaseema and East Godavari districts.

D. Nageshwar Reddy and G.V. Rao of the institute and G.R. Chandak of the CCMB, told a press conference here that a study conducted by the two organisations on 120 patients found that a majority of them with or without diabetes mellitus had an abnormal mutation in the gene.

The gene produced a specific protein, pancreatic secretory trypsin inhibitor, which inhibits the normally activated trypsinogen inside the pancreas and thus prevents autodigestion of pancreas. "When this protein is abnormal due to mutations in this gene, the trypsin starts digestion of pancreas leading to recurrent attacks of pancreatitis''.

The study has for the first time established the genetic basis of tropical pancreatitis. Its results show that the genetic basis is different from the commonly occurring pancreatitis due to alcohol abuse in the West.

This mutation may be used as a screening tool for such patients as well as the unaffected relatives of patients with pancreatitis for preventive strategies.

Dr. Reddy, a gastroenterologist, said the discovery was published in the prestigious British Journal of Medical Genetics at the end of 2002. The findings of the study were also covered by independent investigators from all over the world.

"For the first time probably, a novel gene mutation has been found as a cause of gastrointestinal disease in our country".

Now that the gene has been identified it would be possible to screen patients with different types of pancreatitis and treat them at early stages with medicine and endoscope so that the course of the disease could be modified and arrested, Dr.Reddy and Dr. Chandak explained. Genetic counselling could also be provided to them.

The study showed that the genetic bases for many Indian diseases were likely to be different from the West and tropical pancreatitis probably represents one of the first few of them.

In the light of this information, it was important that such diseases were investigated in the country and blood samples not sent abroad.

P.V.J. Sriram of the institute and Mohd. Idris, Seema Bhaskar, Radha Mani and Lalji Singh of the CCMB were involved in the study.

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