Featured Research

from universities, journals, and other organizations

Gene find offers hope of screening test for bone disease

Date:
May 3, 2010
Source:
University of Edinburgh
Summary:
Scientists have discovered three genes linked to the development of Paget's disease, a painful bone condition. Researchers believe the genes are involved in regulating the rate at which bone is repaired, providing an explanation of why the disease might occur.

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 disease since, until now, only one gene was known to cause about 10 per cent of cases with Paget's disease. The three genes identified from this study contribute to 70 per cent of the disease risk -- quite unusual in common diseases. We are currently extending our studies to identify the genes responsible for the remaining 20 per cent of the disease risk."

Professor Stuart Ralston, Arthritis Research UK Professor of Rheumatology, who led the project at the University of Edinburgh, 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."


Story Source:

The above story is based on materials provided by University of Edinburgh. Note: Materials may be edited for content and length.


Journal Reference:

  1. Omar M E Albagha, Micaela R Visconti, Nerea Alonso, Anne L Langston, Tim Cundy, Rosemary Dargie, Malcolm G Dunlop, William D Fraser, Michael J Hooper, Gianluca Isaia, Geoff C Nicholson, Javier del Pino Montez, Rogelio Gonzalez-Sarmiento, Marco di Stefano, Albert Tenesa, John P Walsh & Stuart H Ralston. Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. Nature Genetics, May 2, 2010 DOI: 10.1038/ng.562

Cite This Page:

University of Edinburgh. "Gene find offers hope of screening test for bone disease." ScienceDaily. ScienceDaily, 3 May 2010. <www.sciencedaily.com/releases/2010/05/100502173843.htm>.
University of Edinburgh. (2010, May 3). Gene find offers hope of screening test for bone disease. ScienceDaily. Retrieved September 2, 2014 from www.sciencedaily.com/releases/2010/05/100502173843.htm
University of Edinburgh. "Gene find offers hope of screening test for bone disease." ScienceDaily. www.sciencedaily.com/releases/2010/05/100502173843.htm (accessed September 2, 2014).

Share This




More Health & Medicine News

Tuesday, September 2, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Get on Your Bike! London Cycling Popularity Soars Despite Danger

Get on Your Bike! London Cycling Popularity Soars Despite Danger

AFP (Sep. 1, 2014) Wedged between buses, lorries and cars, cycling in London isn't for the faint hearted. Nevertheless the number of people choosing to bike in the British capital has doubled over the past 15 years. Duration: 02:27 Video provided by AFP
Powered by NewsLook.com
Can You Train Your Brain To Eat Healthy?

Can You Train Your Brain To Eat Healthy?

Newsy (Sep. 1, 2014) New research says if you condition yourself to eat healthy foods, eventually you'll crave them instead of junk food. Video provided by Newsy
Powered by NewsLook.com
We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins