Investigation of the role of the ATM protein in peroxisome function and biogenesis.

Funded Activity Summary

Ataxia-telangiectasia (A-T) is a complex multisystem disease characterized by extreme sensitivity to ionizing radiation (X-rays) and susceptibility to cancer, however the most debilitating symptoms are neurodegeneration and susceptibility to bronchial infections. The gene (atm) which is mutated in this disease has recently been cloned and current research is focussed on the function of the protein (termed ATM) that this gene encodes. We have localized the ATM protein to the nucleus, where it plays a role in monitoring DNA damage, and also to vesicles in the cytoplasm of the cell. We have demonstrated that some of these vesicles are peroxisomes, vital cellular organelles involved in a wide range of metabolic functions. The importance of peroxisomes is evidenced by the severe abnormalities in patients with disorders of peroxisome formation and function. Interestingly many of the neurological features of these patients overlap with those displayed by A-T patients. We propose that abnormalities in peroxisomal function in A-T may contribute to the development of neurological symptoms and we plan to examine the function of peroxisomes in cells from A-T patients, and in tissues from A-T mutant mice. This work may help design new treatments to ameliorate the most debilitating aspects of this disease.

Funded Activity Details

Start Date: 01-01-2000

End Date: 01-01-2002

Funding Scheme: NHMRC Project Grants

Funding Amount: $250,756.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Biochemistry And Cell Biology Not Elsewhere Classified

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

aging | ataxia-telangiectasia | cancer | neurodegeneration | oxidative stress | peroxisomes

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