Hope for million Britons as Scots unlock genetic code to agonising bone disorder

SCOTTISH scientists have discovered genetic links to a serious bone disorder which could help prevent many people suffering its painful effects.

The international research, led by Edinburgh University, found three genes linked to the development of Paget's disease, which affects up to one million people in the UK.

It is hoped that the discovery will lead to sufferers being identified earlier so preventative treatments can be given.

The scientists believe the genes they have discovered 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 process of breaking down old bone and replacing it. It can lead to increased and irregular bone formation that causes bones to expand. The condition causes enlarged and malformed bones, leading to bone pain, brittle bones susceptible to fractures, and advanced arthritis.

For reasons that remain unclear, the disease is more common in the UK than anywhere else in the world.

The latest research, published in the journal Nature Genetics, studied the genes of 1,250 patients with Paget's disease.

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

Together they estimated that the faulty genes accounted for Paget's disease in about 70 per cent of cases.

The research – funded by Arthritis Research UK and the Paget's Association – confirms that genes play a crucial role in the development of Paget's disease, explaining why many patients have a family history of the condition.

The scientists said 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. It could also improve access to preventative treatment to limit the condition's effects on bones before they become damaged.

Professor Stuart Ralston, Arthritis Research UK's professor of rheumatology, who led the study at Edinburgh University, said: "Our work shows that these three genes together very strongly predict the development of Paget's disease. Their effects are so powerful that they could be of real value in screening for risk of the disease.

"This is important since we know that if treatment is left too late, then irreversible damage to the bones can occur. If we were able to intervene at an early stage with preventative therapy, guided by genetic profiling, this would be a major advance."

The study will be welcomed by those working with patients with long-term illnesses.

"Around two million people live with long-term conditions in Scotland and this number is set to grow dramatically," said Shelley Gray of the Long Term Conditions Alliance Scotland.

"Prevention, early detection and support for people to manage their conditions is vital for quality of life at the same time as delivering value for money for the public purse."