Abstracts
A novel therapy for a genetic disease affecting children
Dr Ainslie Roberts
PhD Awarded July 2007 – University of Adelaide,
Discipline of Paediatrics
Supervised through Genetic Medicine, CYWHS
In the body’s cells there is a continual process of replacing used materials and breaking them down for disposal. Children with MPS IIIA are missing a particular protein, called sulphamidase, which allows specific materials to be broken down. The materials that collect in cells are long chains of sugar called mucopolysaccharides and storage of these in cells lead to problems such as mental retardation, organ enlargement and patients normally die in their second decade of life. At present there is no cure for MPS IIIA. Research into replacing the missing protein has shown no long-term benefit on brain disease and bone marrow transplantation has been disappointing. A new therapy, substrate deprivation therapy, slows down the synthesis of the long sugar chains, and is therefore able to reduce the amount of sugar in the cells and help restore normal function. Using patient cells grown in the laboratory, we have inhibited sugar production which in turn reduces the build-up of sugar in MPS cells. MPS IIIA mice treated with inhibitor displayed a delay in the development of MPS IIIA. Specifically, treated mice showed a reduction in tissue sugar content and an improvement in their ability in a learning and memory swimming test. Overall, our alternative approach to MPS treatment is the first therapy which is able to target both the organs and the brain symptoms with a single therapeutic application.
