Genes clue to Paget's disease

Pa
Monday 30 May 2011 04:22 EDT
Comments

Your support helps us to tell the story

From reproductive rights to climate change to Big Tech, The Independent is on the ground when the story is developing. Whether it's investigating the financials of Elon Musk's pro-Trump PAC or producing our latest documentary, 'The A Word', which shines a light on the American women fighting for reproductive rights, we know how important it is to parse out the facts from the messaging.

At such a critical moment in US history, we need reporters on the ground. Your donation allows us to keep sending journalists to speak to both sides of the story.

The Independent is trusted by Americans across the entire political spectrum. And unlike many other quality news outlets, we choose not to lock Americans out of our reporting and analysis with paywalls. We believe quality journalism should be available to everyone, paid for by those who can afford it.

Your support makes all the difference.

At least seven genes may account for the development of a type of arthritis which affects up to one million people in the UK, scientists have discovered.

The team of international researchers hope the discovery will bring genetic screening to identify those at risk of developing Paget's disease a step closer.

The condition impacts the way bone develops and renews itself and can lead to enlarged and malformed bones.

It affects more people in the UK than anywhere else in the world.

Scientists, led by the University of Edinburgh, believe the genes are involved in regulating the rate at which bone is renewed and repaired, providing an explanation of why the disease occurs.

Professor Stuart Ralston, Arthritis Research UK professor of rheumatology, headed the the study and said the results could be a "major advance" in dealing with the bone disease.

He said: "We have now identified seven genes that predispose people to Paget's. The effect of these is large, and together they considerably increase the risk of developing the condition.

"Our work shows that these 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, published in the journal Nature Genetics, confirms how genes play a crucial role in the development of Paget's disease, explaining why many patients have a family history of the condition.

Researchers funded by Arthritis Research UK and the Paget's Association studied 2,215 patients with the disease to find the genes that could cause the condition.

The team, including scientists from the UK, Australia, Spain, Italy, Holland, and Belgium, found four genes that were faulty more frequently in patients with the bone disease than in healthy people.

Previously, they used a similar approach to identify three genes that caused the condition.

Professor Ralston is now setting up a clinical trial to identify people at risk of Paget's and to offer them preventative treatment.

Join our commenting forum

Join thought-provoking conversations, follow other Independent readers and see their replies

Comments

Thank you for registering

Please refresh the page or navigate to another page on the site to be automatically logged inPlease refresh your browser to be logged in