Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency


Meimaridou E., Kowalczyk J., Guasti L., Hughes C. R. , Wagner F., Frommolt P., ...Daha Fazla

NATURE GENETICS, cilt.44, ss.740-742, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 7
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1038/ng.2299
  • Dergi Adı: NATURE GENETICS
  • Sayfa Sayıları: ss.740-742

Özet

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.