Functional Role of Aprataxin: Mutated in Ataxia with Oculomotor Apraxia

Funded Activity Summary

The proposal is designed to investigate the role of a novel protein called Aprataxin in the cellular response to genotoxic stress. Aprataxin is mutated in a human genetic disorder, ataxia with oculomotor apraxia type 1 (AOA1). These individuals have a progressive loss of motor function and have difficulties with eye movement and focus. It is not clear why the loss of the Aprataxin protein is manifested by neurodegenerative changes and little effect on other tissues. We have demonstrated that cells from AOA1 patients are more sensitive to agents that cause breaks in DNA and we have shown that Aprataxin associates with proteins required to repair these breaks. The aim here is to investigate in detail the role of Aprataxin in DNA repair. We have also shown that Aprataxin is localized to different regions of the nucleus and will investigate the significance of this in relation to the response to genotoxic stress. A greater understanding of how this protein functions in the cell is likely to provide important information on why it is Aprataxin is so important in the brain. In the longer term this information may assist in the treatment of spinocerebellar ataxia syndromes.

Funded Activity Details

Start Date: 01-01-2005

End Date: 01-01-2007

Funding Scheme: NHMRC Project Grants

Funding Amount: $276,000.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Gene Expression (incl. Microarray and other genome-wide approaches)

ANZSRC Socio-Economic Objective (SEO)

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Other Keywords

Basic Science | Cell Biology | Cell Survival | Chromosomal Disorders | DNA damage | DNA repair | Disease Gene | Gene expression | Genetic Disease | Molecular Genetics

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