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The ATM signaling network in development and disease
Travis H Stracker1, Ignasi Roig, Philip A Knobel
1Oncology Programme, Institute for Research in Biomedicine (IRB Barcelona) Barcelona, Spain.
Frontiers in Genetics
|March 28, 2013
Summary
The DNA damage response (DDR) maintains genome stability by coordinating cellular repair programs. The ataxia-telangiectasia mutated (ATM) kinase is crucial for this process and its dysfunction leads to severe human diseases.
Area of Science:
- Molecular Biology
- Cell Biology
- Genetics
Background:
- The DNA damage response (DDR) is essential for maintaining genome integrity by managing DNA lesions.
- DNA double-strand breaks (DSBs) are highly cytotoxic, and their faulty repair causes hereditary diseases with genomic instability.
- Defects in DDR lead to developmental issues, immune deficiencies, germline problems, metabolic dysregulation, and cancer predisposition.
Purpose of the Study:
- To review the general roles of ataxia-telangiectasia mutated (ATM) signaling in the DDR.
- To highlight recent advances in understanding ATM's diverse functions in human disease.
- To underscore the importance of ATM signaling in genome maintenance and disease pathogenesis.
Main Methods:
- Literature review of the DNA damage response.
- Analysis of the role of ATM kinase in signal transduction.
- Synthesis of recent findings on ATM and related proteins in human diseases.
Main Results:
- ATM kinase is a central regulator of the DDR to DSBs.
- ATM signaling coordinates cell cycle checkpoints, DNA repair, metabolism, and cell fate.
- Dysregulation of ATM signaling is implicated in various human hereditary diseases.
Conclusions:
- Understanding ATM signaling is critical for diagnosing and treating human diseases linked to genomic instability.
- ATM and related proteins play diverse roles in vivo, impacting development and cancer.
- Further research into ATM pathways offers potential therapeutic strategies for DDR-related disorders.
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