Medical Research Council - London Institute of Medical Sciences

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Too Soon

How the protein RAB23 controls the growth and fusion of developing skull bones

17 October 2020

Too Soon

To protect the brain yet allow room for growth, a new-born child’s skull is formed of several bony plates, linked by more flexible seams, or sutures, which harden and fuse together around two years of age. In some rare conditions such as Carpenter syndrome, this process goes awry and the skull fuses too early in development, a problem known as craniosynostosis, leading to an abnormal skull shape. Carpenter syndrome is a genetic condition, also characterised by defects in the development of fingers and toes, with most cases linked to mutations in the gene RAB23. A small signalling protein, RAB23 is involved in many processes during development, but researchers are seeking to elucidate its dramatic effect on skull fusion. By studying sutures in mice lacking RAB23 (pictured, with bone-producing osteoblasts in green), they recently identified roles for RAB23 in regulating important signalling pathways controlling skull development, suggesting new avenues to explore.

Written by Emmanuelle Briolat

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