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Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions
Open accessAbstract
In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was localized to 11q22.3-23.1. It was eventually cloned in 1995. Many independent laboratories have since demonstrated that in replicating cells, ataxia telangiectasia mutated (ATM) is predominantly a nuclear protein that is involved in the early recognition and response to double-stranded DNA breaks. ATM is a high-molecular-weight PI3K-family kinase. ATM also plays many important cytoplasmic roles where it phosphorylates hundreds of protein substrates that activate and coordinate cell-signaling pathways involved in cell-cycle checkpoints, nuclear localization, gene transcription and expression, the response to oxidative stress, apoptosis, nonsense-mediated decay, and others. Appreciating these roles helps to provide new insights into the diverse clinical phenotypes exhibited by A-T patients—children and adults alike—which include neurodegeneration, high cancer risk, adverse reactions to radiation and chemotherapy, pulmonary failure, immunodeficiency, glucose transporter aberrations, insulin-resistant diabetogenic responses, and distinct chromosomal and chromatin changes. An exciting recent development is the ATM-dependent pathology encountered in mitochondria, leading to inefficient respiration and energy metabolism and the excessive generation of free radicals that themselves create life-threatening DNA lesions that must be repaired within minutes to minimize individual cell losses.
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“Notably, ATM was directly activated by hydrogen peroxide-induced oxidation in the absence of DNA damage, evidenced by ATM auto-phosphorylation at Serine 1981, p53 phosphorylation at Serine 15, and Chk2 phosphorylation at Threonine 68, but not by H2AX phosphorylation at Serine139 [74–76].”
From Functional interplay between ATM/ATR-mediated DNA damage response and DNA repair pathways in oxidative stress (2014) · cites this paper as [75]
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DNA damage to human genetic disorders with neurodevelopmental defects
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RetractedAtaxia-telangiectasia clinical trial landscape and the obstacles to overcome
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Metadata
- Authors
- Ambrose, M., & Gatti, R. A.
- Affiliations
- University of Tasmania (AU)
- University of California, Los Angeles (US)
- ORCID
- Ambrose, Mark
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2013-05-16
- Volume
- 121
- Issue
- 20
- Pages
- 4036-4045
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC3709651
- OpenAlex
- W2005459546
- Cited by
- 196
- References
- 138
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 5 · 2023: 11 · 2022: 8 · 2021: 13 · 2020: 18 · 2019: 13 · 2018: 16 · 2017: 20 · 2016: 26 · 2015: 21 · 2014: 24 · 2013: 6
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- Figshare (submittedVersion)
- Funders
- U.S. Public Health Service
- National Institute of Allergy and Infectious Diseases (AI 067769, U19AI067769)
- National Institute of Neurological Disorders and Stroke (R01NS052528, NS 052528)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Effects of Radiation Exposure
- Keywords
- ataxia telangiectasia, ATM kinase, DNA double-strand break response, PI3K-related kinases, cell cycle checkpoints, oxidative stress, apoptosis, nonsense-mediated mRNA decay, neurodegeneration, cancer susceptibility, radiosensitivity, mitochondrial dysfunction, free radical DNA damage, transcriptional regulation, insulin resistance, immunodeficiency
- MeSH terms
- Adult, Animals, Ataxia Telangiectasia, DNA Damage, DNA-Binding Proteins, Humans, Mitochondria, Models, Biological, Oxidation-Reduction, Protein Serine-Threonine Kinases, Oxidative Stress, Cell Cycle Proteins, Tumor Suppressor Proteins, DNA Breaks, Double-Stranded, Ataxia Telangiectasia Mutated Proteins
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