Society for Mucopolysaccharide Diseases
MPS House, Repton Place, White Lion Road, Amersham, Buckinghamshire, HP7 9LP, UK
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National Registered Charity No. 287034

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Institute of Child Health

THE IDENTIFICATION OF BIOMARKERS IN MUCOPOLYSACCHARIDOSES (MPS) DISORDERS
3 year grant £221,203 commenced 1 March 2004

A biomarker is defined as a molecule that indicates alterations in physiology from normal. The aim of this project is the identification of biomarkers for Mucopolysaccharidoses. In the Mucopolysaccharidoses (MPS), the primary enzyme deficiency leads to the accumulation of storage material (GAGs) within the lysosomes of the cells of affected children and adults with MPS. This results in an array of clinical features causing progressive physical and in some cases mental deterioration, MPS sufferers commonly die in childhood or early adulthood. Very little is known at the molecular and cellular levels about the secondary effects of GAG storage in MPS cells. In some other lysosomal storage diseases, secondary changes in the expression of lysosomal enzymes have become useful biomarkers, for example Chitrosidase in Gaucher cells (Gaucher disease). By identifying putative biomarkers in MPS disorders and investigating at a molecular level, the secondary effects of GAG storage, biomarkers could be used to monitor the effectiveness of treatment, initially in patient cell lines and ultimately in affected patients.

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