Scientists may be one step closer to preventing a hereditary disease that causes bone tumors in children, thanks to a recent discovery by Microbiology Assoc. Prof. Frank Tufaro and a team of Canadian Genetic Diseases Network (CGDN) researchers.
The team has identified the structure and function of a tumor suppressor protein produced by the gene responsible for Hereditary Multiple Exostoses (HME), a disease that causes benign and cancerous bone tumors. Defects in the gene create changes in the protein, making it unable to suppress tumor formation, leading to disease.
"Scientists attribute most HME cases to mutations in this gene and its protein," says Tufaro. "However, the function of the gene and how mutations cause the disease have been unclear until now."
This new information about the protein gives scientists the tools they need to trace the biochemical pathway leading from the defective gene to HME.
HME accounts for 15 per cent of all bone tumors and 50 per cent of benign bone tumors, some of which can degenerate into malignancies in connective cartilage tissues and bone joints.
The CGDN, headquartered at UBC, focuses on the molecular and cellular causes of inherited disease. It comprises 50 scientists and their teams based in 18 universities, hospitals and research centres across Canada.