2. Academic Validation
  3. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

  • Nat Genet. 2012 May 27;44(7):740-2. doi: 10.1038/ng.2299.
Eirini Meimaridou 1,  Julia Kowalczyk,  Leonardo Guasti,  Claire R Hughes,  Florian Wagner,  Peter Frommolt,  Peter Nürnberg,  Nicholas P Mann,  Ritwik Banerjee,  H Nurcin Saka,  J Paul Chapple,  Peter J King,  Adrian J L Clark,  Louise A Metherell
Affiliations

Affiliation

  • 1 Centre for Endocrinology, Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK.
PMID: 22634753 DOI: 10.1038/ng.2299
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.

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