Genetic link discovered for bone disease
POSTED June 1, 2011 - 16:28 | POSTED BY Dipankar Roy
Last edited by Silky Chandvani on June 1, 2011 - 17:15
The team of scientists from UK, Spain, Australia, and New Zealand, claim that genes control the rate at which bones are repaired, and may provide the reasons for the development of the disease.
Paget's disease, commonly observed at an older age and in women, interrupts the body's normal method of breaking and replacing old bone, leading to bone pain, brittle bones, and advanced arthritis.
More people in the UK are affected by the disease than other parts of the world.
Research into genetic links
Funded by the Arthritis Research UK and Paget Association UK, the team looked into genes of 1250 patients to find those that may be responsible for the disease.
They identified three faulty genes in patients with the disease, which accounted for nearly 70 percent of the study cases.
The result affirmed the role of genes in Paget’s disease, and provided the reasons for patients having a family history of the condition.
A major advancement
Dr Omar Albagha, who conducted 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."
Stuart Ralston, Arthritis Research UK Professor of Rheumatology, who the project lead at the University of Edinburgh, stated, "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 findings have been published in the journal ‘Nature Genetics.’
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