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Gene find offers hope of screening test for bone disease
Date:5/2/2010

Scientists have discovered three genes linked to the development of Paget's disease, a painful bone condition that affects up to one million people in the UK.

The international team of scientists, led by the University of Edinburgh, believes the genes are involved in regulating the rate at which bone is repaired, providing an explanation of why the disease might occur.

Paget's disease disrupts the body's normal process of breaking down old bone and replacing it. The condition leads to enlarged and malformed bones and patients can suffer from bone pain, brittle bones susceptible to fractures, and advanced arthritis. It affects more people in the UK than anywhere else in the world.

The scientists say that identifying the genes that predispose people to the bone disease could lead to the development of a screening test to identify those most at risk, and improve access to preventative treatment.

Researchers funded by Arthritis Research UK and Paget Association UK studied the genes of 1250 patients with Paget's disease to find the genes that could cause the condition.

The team which included scientists from Spain, UK, New Zealand, and Australia found that three genes that were faulty more frequently in patients with the bone disease than in healthy people.

Together, the faulty genes accounted for the development of Paget's disease in about 70 per cent of cases.

The results published in the journal Nature Genetics confirm that genes play a crucial role in the development of Paget's disease, which explains why many patients have a family history of the condition.

It is hoped that the discovery will allow early detection of the disease and allow doctors to give preventative treatment before bones have become damaged.

Dr Omar Albagha, who performed the study at the University of Edinburgh, said, "These findings represent a major advancement to our understanding of the dis
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Contact: Anna Borthwick
anna.borthwick@ed.ac.uk
44-131-651-4400
University of Edinburgh
Source:Eurekalert

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