Medical Research Council - London Institute of Medical Sciences

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Skeleton Key
07 July 2014

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

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