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Ataxia Telangiectasia and its Overlap with Nijmegen Breakage Syndrome and Ataxia‑Like Disorders

This chapter appears in the following book:

Molecular Mechanisms
of Ataxia Telangiectasia

Edited by: Shamim I. Ahmad
ISBN: TBA
» Get more information about this book at landesbioscience.com «

Chapter authors:
Lindsay G. Ball and Wei Xiao


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Ataxia Telangiectasia (AT), Nijmegen Breakage Syndrome (NBS) and AT‑Like Disorder (ATLD) are three closely related human diseases. AT, NBS and ATLD share several prominent cellular phenotypes including increased sensitivity to ionizing radiation, abnormal cell‑cycle checkpoints, chromosome instability, immunodeficiency and accelerated shortening of telomeres. However, notable distinctions amongst AT, NBS and ATLD patients are also prevalent. While AT patients are defective in the ATM gene, ATLD and NBS patients have mutations in genes encoding an MRN protein complex consisting of Mre11 (mutated in ATLD), Rad50 and Nbs1 (mutated in NBS). The MRN complex plays critical and complicated roles in regulating ATM functions which, upon examination, justifies the similarities and distinctions between AT, NBS and ATLD patients. Continued research and investigation into the mechanisms and pathways involved in MRN and ATM signaling will facilitate advanced diagnosis and treatment of AT and related diseases.

Lindsay G. Ball

Wei Xiao
Department of Microbiology and Immunology, University of Saskatchewan

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Additional chapters from this book:

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Ataxia Telangiectasia and its Overlap with Nijmegen Breakage Syndrome and Ataxia‑Like Disorders

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