ACTH signalling and adrenal development: lessons from mouse models.

ABSTRACT: The melanocortin-2-receptor (MC2R), also known as the ACTH receptor, is a critical component of the hypothalamic-pituitary-adrenal axis. The importance of MC2R in adrenal physiology is exemplified by the condition familial glucocorticoid deficiency (FGD), a potentially fatal disease characterised by isolated cortisol deficiency. MC2R mutations cause ~25% of cases. The discovery of a MC2R accessory protein MRAP, mutations of which account for ~20% of FGD, has provided insight into MC2R trafficking and signalling. MRAP is a single transmembrane domain accessory protein highly expressed in the adrenal gland and essential for MC2R expression and function. Mouse models helped elucidate the action of ACTH. The Mc2r-knockout (Mc2r - / - ) mice was the first mouse model developed to have adrenal i

SUBMITTER: Novoselova TV 

PROVIDER: S-EPMC6652236 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature