hrp0092rfc13.4 | Adrenals and HP Axis | ESPE2019

Loss-Of-Function NNT Mutations Impair Antioxidants Mechanisms and Decreases Cortisol Secretion in Patients with Famililar Glucocorticoid Deficieny

Faccioli Bodoni Aline , Coeli-Lacchini Fernanda , Gebenlian Juliana , Sobral Lays , Moreira Ayrton , Elias Lucila , Silva Wilson , de Catro Margaret , Leopoldino Andréia , Antonini Sonir

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...

hrp0098rfc8.5 | Adrenals and HPA Axis 2 | ESPE2024

Mitochondrial Nicotinamide Nucleotide Transidrogenase (NNT) and NNT-AS1 impairment is associated with worse outcomes in patients with adrenocortical tumors

Faccioli Bodoni Aline , Gutierrez Junier , Gebenlian Juliana , Coeli Laccini Fernanda , Carolina Bueno Ana , Zorzetto Vencio Ricardo , de Castro Margaret , Antonini Sonir

Background: Deregulation of oxidative stress and accumulation of reactive oxygen species are metabolic factors that may affect tumor behavior. New recent insights revealed that the inner mitochondrial protein Nicotinamide Nucleotide Transidrogenase (NNT) is essential in the antioxidant defense mechanisms in the adrenal cortex. Studies have shown that long non-coding RNAs (lncRNAs) are important in cancer regulation. Recent studies demonstrated that lncRNA NNT-...