Hyderabad-based Asian Institute of Gastroenterology (AIG) has come out with a new finding that there is a specific genetic defect that causes gallstone disease (GSD)among Indian patients.
“For the first time we discovered that in Indian patients the mutation in gene- ABCG8 in the liver is resulting in excess excretion of cholesterol into the bile causing cholesterol gall stones,” AIG chairman and chief of gastroenterology, D Nageshwar Reddy, told mediapersons.
Following this finding, Reddy said, AIG had launched a larger study sponsored by the Depart-ment of Biotechnology (DBT). The three-year study to be conducted by AIG in association with DBT and the Centre for Cellular and Molecular Biology is aimed at analysing 100 more genes in the related area. The study is estimated to involve an expenditure of Rs 1 crore.
Gall stones (stones in gall bladder) not only cause a variety of problems like indi-gestion and pain in abdomen but also more serious problems like obstructive jaundice, pancreatitis and even gall bladder cancer. About 6 per cent of the Indian population (3 per cent of men and 10 per cent of women) is estimated to be having gall stones.
AIG scientists working in basic sciences lab and genetics lab came together along with surgeons and physicians to work on the genetic cause of gall stones for the past three years. A total of 226 patients with GSD were analysed for their lipid profile in plasma and bile. This led to the discovery of the genetic defect.
According to Reddy, the discovery has many clinical implications. It will decrease the cost of treatment, will enable to find out the persons having a tendency for GSD and also will be helpful in using preventive medicine in those who have genetic mutation.