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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
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Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
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Journal Article
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
2012
Overview
Adrian Clark and colleagues report mutations in the
NNT
gene encoding nicotinamide nucleotide transhydrogenase in familial glucocorticoid deficiency (FGD).
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Adrenal Cortex Neoplasms - genetics
/ Adrenal Cortex Neoplasms - metabolism
/ Adrenal Insufficiency - enzymology
/ Adrenal Insufficiency - genetics
/ Adrenal Insufficiency - metabolism
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Enzymes
/ Esophageal Achalasia - enzymology
/ Esophageal Achalasia - genetics
/ Esophageal Achalasia - metabolism
/ Exome
/ Fundamental and applied biological sciences. Psychology
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Glucocorticoids - metabolism
/ Humans
/ Infant
/ Male
/ Mice
/ Mutation
/ NADP Transhydrogenases - genetics
/ Reactive Oxygen Species - metabolism
/ Studies
