Three genes which account for 70% of cases of Paget’s disease have been identified by Scottish scientists. It is hoped the finding could lead to a screening test for Paget’s disease, which affects up to one million people in the UK. The genes are thought to regulate bone repair and may explain why the bones of people with the condition become enlarged and malformed. Screening could help doctors target preventive treatment at an early stage.
The international team led by researchers at the University of Edinburgh studied the DNA of 1,250 patients with Paget’s disease to pinpoint the genes that cause the condition. It showed three genes that were faulty more frequently in patients with the bone disease than in healthy people. Together they account for seven in ten cases, they said. The findings explain why many patients with Paget’s disease have a family history of the condition.