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Born to break: Mutation causes fragile bones

Fragile bones are usually an old person’s affliction, but sometimes children are born with them. Now, a team of researchers led by UConn professor Ernesto Canalis has shown in mice that a specific gene can cause the disease, called Hajdu-Cheney syndrome. Overabundant bone-absorbing cells may be causing the disorder’s characteristic bone loss, and the researchers hope to find a potential treatment.

Hajdu-Cheney Mouse Femur
The picture shows a cross-section of the femur of a mouse. The white and purple cells are bone marrow, the pink area is bone, and the arrows show osteoclasts resorbing bone. This mouse has too many osteoclasts; it has a variant of the NOTCH2 gene that causes a disease akin to Hajdu-Cheney syndrome in humans.
Credit: Stefano Zanotti/Canalis Lab, UConn Health