PROTEIN PROFILING FOR THE IDENTIFICATION AND MONITORING OF LYSOSOMAL STORAGE DISORDERS AND OTHER NEUROLOGICAL DISEASES

Funded Activity Summary

Lysosomal storage disorders (LSD) are a group of more than 45 progressive genetic diseases, that result from the absence or impaired function of a specific enzyme in each of the body's cells. Lysosomes rid the cell of excess waste. Impaired enzyme function halts this process and waste begins to accumulate (or 'store') in the cell. Disease severity and patient longevity is variable, but severely affected patients often die by their mid-teens. LSD can affect the skeleton and joints, respiratory and cardiovascular systems, the brain, the eyes, the ears and the airways. As affected children become older, symptoms worsen. Patients often require frequent hospitalisation, and medical and surgical intervention. Approximately 10 to 15% of the general population are affected or carriers of an LSD. In Australia, one LSD child is born in every 5,000 live births. Diagnosis often takes several years, and families often have other children before their affected child is diagnosed. LSD are, therefore, a considerable burden to not only the families but also to the health care system. The goal of the Lysosomal Diseases Research Unit is Diagnosis at birth and effective therapy for lysosomal storage disorders. To this end we have been working toward the development of a newborn screening program for LSD and improved methods for the diagnosis and monitoring of therapy in this group of diseases. In this project we propose to develop and evaluate the use of protein profiling (looking at many diagnostic markers at the same time) to achieve these goals. The technology developed in this project will have potential application beyond LSD. Lysosomal dysfunction has been implicated in Alzheimer's disease and Parkinson's disease; in addition lysosomal proteins are reported to be involved in the spread of some cancers and may be useful markers for early detection. We will collaborate with other research groups to further develop protein profiling in these areas.

Funded Activity Details

Start Date: 01-01-2005

End Date: 01-01-2007

Funding Scheme: NHMRC Project Grants

Funding Amount: $469,500.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Medical Biotechnology Diagnostics (incl. Biosensors)

ANZSRC Socio-Economic Objective (SEO)

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Other Keywords

developmental/genetic disease | diagnostic techniques | diagnostics tests and procedures | lysosomal enzymes | lysosomal storage disease | monitoring effectiveness of treatment | newborn infant | protein profiling | proteomics | screening

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