Mitochondrial dysfunction in ataxia-telangiectasia

YA Valentin-Vega, KH MacLean… - Blood, The Journal …, 2012 - ashpublications.org
YA Valentin-Vega, KH MacLean, J Tait-Mulder, S Milasta, M Steeves, FC Dorsey…
Blood, The Journal of the American Society of Hematology, 2012ashpublications.org
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 …
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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