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Saturday 22nd October 2016

Genes identified in painful bone disease

4th May 2010

Researchers at the University of Edinburgh have found three genes which cause seven in 10 cases of Paget's disease.


The disease, which is suffered by around one million people in the UK, causes bone pain, arthritis and weak bones which fracture easily.

Normally the body breaks down old bone and replaces it with new cells. The disease causes bones to regenerate too quickly, leading to deformities and pain.

The researchers are hopeful that their discovery could lead to a screening test for the condition.

The team examined the DNA of 1,250 patients with the disease in order to identify the genes which caused the problems.

They found three "faulty" genes occurred more often in patients with the disease than in those without the condition.

Researcher Dr Omar Albagha called the results of the study a "major advance" in scientists' comprehension of the reasons for the development of Paget's disease.

"The three genes identified from this study contribute to 70% of the disease risk - quite unusual in common diseases," he said.

"We are currently extending our studies to identify the genes responsible for the remaining 20% of the disease risk."


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