Casey Broadbent

• BSc (Hons) Biomedical Sciences
• Investigation of Creld2 and its action in cartilage and bone development

Multiple epiphyseal dysplasia (MED) is a rare genetic skeletal dwarfism characterised by short stature due to defective processes affecting the growth plate where cartilage transforms to bone.

This disease is linked to inherited DNA mutations in proteins important in cartilage and bone development. Insufficient degradation of altered proteins induces cellular stress resulting in increased levels of a protein regulator called Creld2.

To understand its role in this process I am investigating its actions within mice models, both with and without the gene for Creld2 (knockout) and the impact this has on the growth plate, cartilage differentiation and bone structure.

We found that mice lacking Creld2 exhibited abnormal cartilage and bone formation in comparison to those with the gene, and displayed features of MED.

This data suggests that Creld2 is important in this process, and is a potential target in the treatment of skeletal dwarfisms.

Funding source: Newcastle University

Supervisor: Prof Michael Briggs