Scots scientists have pinpointed the fault in a key gene which triggers a painful bone disease.
A gene called OPTN regulates cells that keep bones healthy by breaking down old bone and replacing it, a study from Edinburgh University has revealed.
In Paget’s disease, a condition which affects more than a million people, the number of these bone-reducing cells are increased which leads to abnormal bone development. An increase in the number of bone-removing cells prompts the normal repair process to go into overdrive, causing bones to become deformed.
Dr Omar Albagha, of Edinburgh University, said: “This study advances our understanding of disease mechanisms and identifies a novel molecular pathway that could form a target for new therapeutic treatment for this painful condition.”