Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).

ABSTRACT:

Context

Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance of redox regulation in steroidogenesis.

Objective

We hypothesized that other components of mitochondrial antioxidant systems would be good candidates in the etiology of FGD.

Design

Whole-exome sequencing was performed on three related patients, and segregation of putative causal variants confirmed by Sanger sequencing of all family members. A TXNRD2-knockdown H295R cell line was created to investigate redox homeostasis.

Setting

The study was conducted on patients from t

SUBMITTER: Prasad R 

PROVIDER: S-EPMC4207928 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature