Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
Tarih
2012Yazar
Chapple, J. Paul
Metherell, Louise A.
Banerjee, Ritwik
King, Peter J.
Clark, Adrian J. L.
Saka, H. Nurcin
Meimaridou, Eirini
Kowalczyk, Julia
Guasti, Leonardo
Hughes, Claire R.
Wagner, Florian
Frommolt, Peter
Nuernberg, Peter
Mann, Nicholas P.
Üst veri
Tüm öğe kaydını gösterÖzet
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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