How does the loss of exostosin gene function induce tumour formation?
Research type
Research Study
Full title
Histological analyses of signalling pathway components in growth plate tissue of children with Multiple Osteochondromas
IRAS ID
128451
Contact name
Henry Roehl
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Research summary
Multiple Osteochondomas (MO) is a genetic condition (occurrence of 1 in 50,000) that causes the formation of numerous skeletal tumours (osteochondromas) in children. Patients carry mutations in either the exostosin1 or exostosin2 genes, but exactly how these mutations induce tumour formation is unknown. There is currently no treatment for MO besides surgical removal of the tumours. We have received funding to determine which signalling pathways are active in osteochondromas (CRUK project grant C11413/A12714 ). We have identified the ’Wnt/Planar Cell Polarity’ signalling pathway as a candidate for the aetiology of MO and our aims are to compare the presence of different components of this pathway in normal and osteochondroma tissue. The results will be compared to data generated with our zebrafish model and if we can identify molecular differences between the healthy and diseased state then this knowledge may provide new targets for pharmacological intervention.
REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
13/YH/0261
Date of REC Opinion
12 Aug 2013
REC opinion
Further Information Favourable Opinion