Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
E Meimaridou, J Kowalczyk, L Guasti, CR Hughes… - Nature …, 2012 - nature.com
E Meimaridou, J Kowalczyk, L Guasti, CR Hughes, F Wagner, P Frommolt, P Nürnberg…
Nature genetics, 2012•nature.comUsing 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.
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.
Abstract
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.
nature.com