A gene defect that causes gall stone

HYDERABAD: Scientists working at the Asian Institute of Gastroenterology (AIG) here have discovered that genetic defect due to a mutation in gene, ABCG8, in the liver causes growth of gall-bladder stones in Indians.

The discovery, made for the first time in Asia, is likely to result in more accurate diagnosis, reduced cost of treatment, use of preventive medicine (UDCA) for those having genetic mutation, and reduced chances of cancer and death.

AIG chairman and chief of gastroenterology Dr D Nageshwar Reddy, along with scientists Dr GV Rao, Dr Sasi Kala and Dr Shiva Prasad, told reporters here today that the AIG, along with the Centre for Cellular and Molecular Biology (CCMB), would conduct a major study on the genetic nature of gall stone diseases.

The study, which may take three years, will be sponsored by the Union department of biotechnology (DBT). The staff at AIG believe that these discoveries will result in heralding personalised medication and will change the way medicine is being practised now.

According to Reddy, the discovery has thrown light on a specific genetic defect among Indian patients (mostly in Uttar Pradesh) causing gall stones. Mutation in gene, ABCG8, in the liver was resulting in excess excretion of cholesterol into the bile causing cholesterol gall stones.

Along with the age of the patient the secretion increases causing more gall stones in older patients.

The research, which took more than three years, was published in the ‘Journal of Gastroenterology and Hepatology, 2010’, he said.

Replying to queries, Reddy said the discovery would reduce the basic cost of testing at labs (having gene sequence and real-time PCR equipment) to just Rs 500. At present, treatment of gall stones costs about Rs 30,000.

Earlier, it was thought that gall stones resulted from eating fatty food, food containing high refined sugar, obesity, lack of exercise, etc. Now, these are found to be hereditary and have high incidence among the twins.

People with tendency would be advised to have life style changes like lower intake of sugar, higher intake of fiber and exercise. People with high risk and have tendency to develop cancer, prophylactic removal of gall bladder would decrease the chances of cancer and death. ''We (AIG) believe that with this discovery we will be able to manipulate the genes so that gall stones can be prevented in future, '' he added.




source- expressbuzz.com