Document Type

Article

Publication Date

11-20-2023

Keywords

JGM, Humans, Glucocorticoids, Adrenal Insufficiency, Adrenocorticotropic Hormone, Pluripotent Stem Cells, Receptors, Corticotropin

JAX Source

Cell Rep Methods. 2023;3(11):100627.

ISSN

2667-2375

PMID

37924815

DOI

https://doi.org/10.1016/j.crmeth.2023.100627

Grant

This work was supported by grants from IFCAH (to G.R.B. and D.T.B.), the EU-Marie-Cu- rie Fellowship 835533 (to G.R.B.), the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) project no. 314061271, TRR 205/1: ‘‘The Adrenal: Central Relay in Health and Disease’’ (to G.R.B. and S.R.B.), the MRC Clinical Training Fellowship Grant Ref: MR/P019897/1 (to A.R.D.C.), and BBSRC (BB/V007246/1) (to L.G.).

Abstract

Adrenal insufficiency is a life-threatening condition resulting from the inability to produce adrenal hormones in a dose- and time-dependent manner. Establishing a cell-based therapy would provide a physiologically responsive approach for the treatment of this condition. We report the generation of large numbers of human-induced steroidogenic cells (hiSCs) from human pluripotent stem cells (hPSCs). Directed differentiation of hPSCs into hiSCs recapitulates the initial stages of human adrenal development. Following expression of steroidogenic factor 1, activation of protein kinase A signaling drives a steroidogenic gene expression profile most comparable to human fetal adrenal cells, and leads to dynamic secretion of steroid hormones, in vitro. Moreover, expression of the adrenocorticotrophic hormone (ACTH) receptor/co-receptor (MC2R/MRAP) results in dose-dependent ACTH responsiveness. This protocol recapitulates adrenal insufficiency resulting from loss-of-function mutations in AAAS, which cause the enigmatic triple A syndrome. Our differentiation protocol generates sufficient numbers of hiSCs for cell-based therapy and offers a platform to study disorders causing adrenal insufficiency.

Comments

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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