Craniosynostosis-associated variants in the IL-11R complex: new insights and questions

被引:1
|
作者
Sims, Natalie A. [1 ,2 ,3 ]
Griffin, Michael D. W. [4 ]
机构
[1] St Vincents Inst Med Res, 9 Princes St, Fitzroy, Vic, Australia
[2] Univ Melbourne, St Vincents Hosp, Dept Med, Parkville, Vic, Australia
[3] Australian Catholic Univ, Mary Mackillop Inst Hlth Res, Melbourne, Australia
[4] Univ Melbourne, Mol Sci & Biotechnol Inst Bio21, Dept Biochem & Pharmacol, Parkville, Vic, Australia
基金
英国医学研究理事会; 澳大利亚研究理事会;
关键词
bone development; craniosynostosis; gp130; IL-11; osteoblast; skull formation; BONE-FORMATION; INTERLEUKIN-11; RECEPTOR; MUTATIONS; IL6ST;
D O I
10.1111/febs.17078
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Skull growth involves the expansion of both the flat calvarial bones of the skull and the fibrous marginal zones, termed sutures, between them. This process depends on co-ordinated proliferation of mesenchymal-derived progenitor cells within the sutures, and their differentiation to osteoblasts which produce the bone matrix required to expand the size of the bony plates. Defects lead to premature closure of these sutures, termed craniosynostosis, resulting in heterogeneous head shape differences due to restricted growth of one or more sutures. The impact on the individual depends on how many and which sutures are affected and the severity of the effect. Several genetic loci are responsible, including a wide range of variants in the gene for the interleukin 11 receptor (IL11RA, OMIM#600939). Recent work from Kespohl and colleagues provides new insights into how some of these variants influence IL-11R function; we discuss their influences on IL-11R structure and IL-11 function as a stimulus of osteoblast differentiation.
引用
收藏
页码:1663 / 1666
页数:4
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