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Mutations in Craniosynostosis Patients Cause Defective Interleukin-11 Receptor Maturation and Drive Craniosynostosis-like Disease in Mice.

Abstract：

:Premature closure of the sutures that connect the cranial bones during development of the mammalian skull results in a phenotype called craniosynostosis. Recently, several craniosynostosis patients with missense mutations within the gene encoding the interleukin-11 receptor (IL-11R) have been described, but the underlying molecular mechanisms have remained elusive. IL-11 is a cytokine that has a crucial role in bone remodeling and activates cells via binding to the IL-11R. Here, we show that patient mutations prevented maturation of the IL-11R, resulting in endoplasmic reticulum retention and diminished cell surface appearance. Disruption of a conserved tryptophan-arginine zipper within the third domain of the IL-11R was the underlying cause of the defective maturation. IL-11 classic signaling via the membrane-bound receptor, but not IL-11 trans-signaling via the soluble receptor, was the crucial pathway for normal skull development in mice in vivo. Thus, the specific therapeutic inhibition of IL-11 trans-signaling does not interfere with skull development.

journal_name

Cell Rep

journal_title

Cell reports

authors

Agthe M,Brügge J,Garbers Y,Wandel M,Kespohl B,Arnold P,Flynn CM,Lokau J,Aparicio-Siegmund S,Bretscher C,Rose-John S,Waetzig GH,Putoczki T,Grötzinger J,Garbers C

doi

10.1016/j.celrep.2018.09.005

subject

Has Abstract

pub_date

2018-10-02 00:00:00

pages

10-18.e5

issue

1

issn

2211-1247

pii

S2211-1247(18)31420-7

journal_volume

25

pub_type

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