期刊
出版社
KARGER
DOI: 10.1159/000342504
关键词
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资金
- Medical Research Council [G0901980, G0801265, G0802796, MR/K020455/1] Funding Source: Medline
- Medical Research Council [MR/K020455/1] Funding Source: researchfish
- MRC [MR/K020455/1, G0901980, G0801265, G0802796] Funding Source: UKRI
ACTH resistance is a rare disorder typified by familial glucocorticoid deficiency (FGD), a genetically heterogeneous disease. Previously, genetic defects in FGD have been identified in the ACTH receptor gene (MC2R), its accessory protein (MRAP) and the steroidogenic acute regulatory protein gene (STAR). The defective mechanisms here are failures in ACTH ligand binding and/or receptor trafficking for MC2R and MRAP and, in the case of STAR mutations, inefficient cholesterol transport to allow steroidogenesis to proceed. Novel gene defects in FGD have recently been recognised in minichromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT). MCM4 is one part of a DNA repair complex essential for DNA replication and genome stability, whilst NNT is involved in the glutathione redox system that protects cells against reactive oxygen species. The finding of mutations in these two genes implicates new pathogenetic mechanisms at play in FGD, and implies that the adrenal cortex is exquisitely sensitive to replicative and oxidative stresses. Copyright (C) 2013 S. Karger AG, Basel
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