Bone Disease

One disease which our research has shed light on is called multiple osteochondromas. This is a dominant genetic disease which results in the formation of benign (non-cancerous) skeletal tumours in children. Besides causing severe skeletal deformity, the bone tumours can compress nerves or other tissue resulting in chronic pain.

Although the tumours can often be removed by a surgeon, they sometimes recur or are in positions that prevent surgery. In some cases, tumours form so frequently that the children spend much of the youth preparing for and recovering from orthopaedic surgery.

Once patients reach adulthood, the occurrence of new tumours stops. However, approximately 1 in 50 patients develop a type of cancer called chondrosarcoma. This is a far higher risk than is found in the normal population. This cancer, although slow growing, is potentially life threatening. Treatment sometimes involves limb amputation, radiotherapy and/or chemotherapy.

Microscopic view of Zebrafish cartilage.
Zebrafish cartilage. Developing ceratobranchial cartilage elements. Stacked chondrocytes are stained in purple.
Microscopic view of a Zebrafish posteria eye.
Zebrafish posteria eye. The developing hyomandibula and opercle of a 5 day old zebrafish larvae shown in pink.

A zebrafish with a rare childhood bone disease

We have identified strains of zebrafish that have skeletal defects which resemble those of patients with multiple osteochondromas. We have found that each strain carries a mutated form of an essential gene and this gene turns out to be the same one that is defective in patients with multiple osteochondromas. By analysing the function of this gene in the skeleton of zebrafish, we hope to shed light on how it works in humans.

An important goal in our research is to identify all of the genes and molecules that are involved in the formation of bone tumours. This knowledge would provide targets for biochemists and pharmaceutical companies to design drug treatments.

Support groups:

The MHE Research Foundation (US)

Hereditary Multiple Exostoses Support Group (UK)