Journal
NATURE GENETICS
Volume 44, Issue 7, Pages 740-742Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2299
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Funding
- Medical Research Council UK [G0801265, G0901980, G0700767]
- MRC [G0801265, G0901980, G0700767] Funding Source: UKRI
- Medical Research Council [G0700767, G0901980, G0801265] Funding Source: researchfish
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Using targeted exome sequencing, we identified mutations in NNT, an antioxidant defense gene, in individuals with familial glucocorticoid deficiency. In mice with Nnt loss, higher levels of adrenocortical cell apoptosis and impaired glucocorticoid production were observed. NNT knockdown in a human adrenocortical cell line resulted in impaired redox potential and increased reactive oxygen species (ROS) levels. Our results suggest that NNT may have a role in ROS detoxification in human adrenal glands.
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