Skip Navigation



British Medical Bulletin Advance Access published online on June 23, 2007
British Medical Bulletin, doi:10.1093/bmb/ldm012
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
81-82/1/129    most recent
ldm012v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Lavin, M. F.
Right arrow Articles by Gatti, R. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Lavin, M. F.
Right arrow Articles by Gatti, R. A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2007. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia

Martin F. Lavin*,{dagger},{ddagger}, Nuri Gueven{dagger}, Stephen Bottle and Richard A. Gatti§

{dagger} Queensland Institute of Medical Research, Brisbane, Queensland, Australia
{ddagger} School of Medicine, The University of Queensland, Brisbane, Australia
Science Research Centre, Queensland University of Technology, Brisbane, Australia
§ UCLA School of Medicine, Los Angeles, CA, USA

* Correspondence to: Professor Martin F. Lavin, Queensland Institute of Medical Research, Brisbane, Queensland, Australia. E-mail: martinl{at}qimr.edu.au

Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. These patients are also hypersensitive to radiotherapy. The gene product defective in this syndrome, ATM (ataxia-telangiectasia mutated), normally recognizes DNA damage and signal to the DNA repair machinery and the cell cycle checkpoints to minimize the risk of genetic damage. No curative strategy for this disease exists. Treatment has focused on slowing the progress of the neurodegeneration; devising approaches for the treatment of tumours while minimizing side effects and treatment with immunoglobulin for the immunodeficiency. The most debilitating feature of this disorder is the progressive neurodegeneration due to loss of Purkinje cells in the cerebellum and malfunction of other neuronal cells. Correcting for the loss of Purkinje cells is technically very difficult and would require transplantation of embryonic stem cells. However, since it seems likely that oxidative stress may contribute to the neurodegeneration in A-T, potential therapies based on the use of antioxidants offer some hope. We describe the natural course of disease, some supportive therapeutic approaches already in use and those with potential based on our knowledge of molecular and cellular characteristics of this disorder.

Keywords: Ataxia-telangiectasia • neurodegeneration • ATM • antioxidants • mutation-targeted therapy

Accepted for publication April 16, 2007.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.