Cited by 365Mitochondrial Function and PathologyAutophagy in Disease and TherapyDNA Repair Mechanisms

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Mitochondrial dysfunction in ataxia-telangiectasia

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Valentin-Vega, Yasmine A., MacLean, Kirsteen H., Tait-Mulder, Jacqueline, Milasta, Sandra, Steeves, Meredith, Dorsey, Frank C., Cleveland, John L., Green, Douglas R., Kastan, Michael B.·2012·Blood

DOI 10.1182/blood-2011-08-373639PMC PMC3286212

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Abstract

Ataxia-telangiectasia mutated (ATM) plays a central role in DNA damage responses, and its loss leads to development of T-cell malignancies. Here, we show that ATM loss also leads to intrinsic mitochondrial abnormalities in thymocytes, including elevated reactive oxygen species, increased aberrant mitochondria, high cellular respiratory capacity, and decreased mitophagy. A fraction of ATM protein is localized in mitochondria, and it is rapidly activated by mitochondrial dysfunction. Unexpectedly, allelic loss of the autophagy regulator Beclin-1 significantly delayed tumor development in ATM-null mice. This effect was not associated with rescue of DNA damage signaling but rather with a significant reversal of the mitochondrial abnormalities. These data support a model in which ATM plays direct roles in modulating mitochondrial homeostasis and suggest that mitochondrial dysfunction and associated increases in mitochondrial reactive oxygen species contribute to the cancer-prone phenotype observed in organisms lacking ATM. Thus, ataxia-telangiectasia should be considered, at least in part, as a mitochondrial disease.

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“In addition, ATM can be directly activated by ROS, independently from DSB signaling, and has been implicated in mitochondrial quality control, potentially through an ability to localize to mitochondria (Guo et al., 2010; Valentin-Vega et al., 2012).”
Background
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Self-citation

Authors: Valentin-Vega, Y. A., MacLean, K. H., Tait-Mulder, J., Milasta, S., Steeves, M., Dorsey, F. C., Cleveland, J. L., Green, D. R., & Kastan, M. B.
Affiliations: Departments of Oncology and
St. Jude Children's Research Hospital (US)
Scripps Research Institute (US)
ORCID: Tait-Mulder, Jacqueline
Dorsey, Frank C.
Cleveland, John L.
Green, Douglas R.
Kastan, Michael B.
Venue: Blood
Publisher: American Society of Hematology
Published: 2012-02-09
Volume: 119
Issue: 6
Pages: 1490-1500
ISSN: 0006-4971 (ISSN-L)
1528-0020
DOI: 10.1182/blood-2011-08-373639
PMC: PMC3286212
OpenAlex: W2120886826
Cited by: 365
References: 51
Citations by year: 2026: 8 · 2025: 15 · 2024: 20 · 2023: 17 · 2022: 22 · 2021: 46 · 2020: 30 · 2019: 26 · 2018: 15 · 2017: 29 · 2016: 38 · 2015: 25 · 2014: 27 · 2013: 29 · 2012: 17
FWCI: 9.47
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: Blood (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Cancer Institute (CA076379, R01CA157216, CA71387, CA157216, R01CA076379, P 30CA 21765, R01CA071387, P30CA021765)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Autophagy in Disease and Therapy
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Keywords: ataxia telangiectasia, ATM, mitochondrial dysfunction, thymocytes, reactive oxygen species, mitophagy, cellular respiration, Beclin-1, autophagy, DNA damage response, T-cell malignancies, mitochondrial homeostasis, cancer susceptibility
MeSH terms: Beclin-1, Adenosine Triphosphate, Animals, Ataxia Telangiectasia, Autophagy, Cells, Cultured, DNA-Binding Proteins, Fibroblasts, Humans, Membrane Proteins, Mice, Inbred C57BL, Mitochondria, Oxygen Consumption, Immunoblotting, Gene Expression, Lymphoma, T-Cell, Protein Serine-Threonine Kinases, Reactive Oxygen Species, Mice, Knockout, Cell Cycle Proteins, Reverse Transcriptase Polymerase Chain Reaction, Tumor Suppressor Proteins, RNA Interference, Microscopy, Electron, Transmission, Apoptosis Regulatory Proteins, Mice, Membrane Potential, Mitochondrial, Kaplan-Meier Estimate, Thymocytes, Ataxia Telangiectasia Mutated Proteins

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Mitochondrial dysfunction in ataxia-telangiectasia

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