Skeleton Key

People with the genetic condition cleidocranial dysplasia (CCD) have incomplete skeletal development – soft bone, and deformities particularly of the body’s midline. Most sufferers display a mutation in a gene called CBFβ, but how it brings about the skeletal abnormalities is unknown. Now by removing the Cbfβ gene from the DNA of a mouse before it develops, scientists have created an animal model that reproduces CCD-like symptoms. With a reduction in bone mineralisation and abnormal skeletal development, mice without Cbfβ (lower image) are also disproportionately shorter than mice with Cbfβ (upper image). This research could help to elucidate the role and function of CBFβ in humans with CCD or other skeletal diseases, possibly resulting in the development of valuable therapies and treatments.

Written by Cara Foley

Cara Foley

Writer

Currently at the University of Kent, Cara is studying for a Masters in Reproductive Medicine. She also holds a degree in biological sciences from the University of Oxford. She is particularly interested in human biology.

• Image by Wei Chen and colleagues
• University of Alabama at Birmingham, USA
• Originally published under a Creative Commons Licence (BY 4.0)
• Research published in PNAS, June 2014