Cited by 196DNA Repair MechanismsImmunodeficiency and Autoimmune DisordersEffects of Radiation Exposure

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Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

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Ambrose, Mark, Gatti, Richard A.·2013·Blood

DOI 10.1182/blood-2012-09-456897PMC PMC3709651

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Abstract

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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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
DOI: 10.1182/blood-2012-09-456897
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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Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

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