Gene Discovery Could Pave the Way for Paget's Disease Screening Test

An international team of scientists, led by the University of Edinburgh, has discovered three genes linked to the development of Paget's Disease.

The researchers concluded that the genes may be involved in regulating how quickly bones are repaired, according to a press release. The disease interferes with the body’s normal process of breaking down and replacing old bones. Those afflicted can experience bone pain from malformed or enlarged bones. Bones may be brittle and left susceptible to fractures as well.

By determining which genes are associated with the disease, the scientists claim that the knowledge could be used to create a screening test for those who may be at risk.

Nature Genetics.

The findings are from a study the team conducted, which recently appeared in the journal The study included 1250 patients with Paget’s Disease. The international team included members from Spain, the United Kingdom, New Zealand, and Australia. They discovered three specific genes that were present in roughly 70% of the cases.

“These findings represent a major advancement to our understanding of the disease since, until now, only one gene was known to cause about 10 percent of cases with Paget's disease,” said Dr. Omar Albagha, one of the researchers. “The three genes identified from this study contribute to 70 percent 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."

An international team of scientists, led by the University of Edinburgh, has discovered three genes linked to the development of Paget’s Disease.