LRP4 mouse model helps to understand rare skeletal disease

« back« all news« all project managers« all projects

Sclerosteosis is a rare autosomal recessive bone disorder marked by excessive bone growth of the skull and tubular bones. Up to now, research showed: sclerosteosis was caused by loss-of-function mutations in the SOST gene, encoding sclerostin.

Recently, researchers within the european SYBIL consortium identified disease causing mutations in LRP4, a binding partner of sclerostin, in three Sclerosteosis patients. Upon binding to sclerostin, LRP4 can inhibit the canonical WNT signaling which is known to be an important pathway in the regulation of bone formation.
A Lrp4 mutated sclerosteosis knock-in mouse model generated by PolyGene showed to be a good model for the human sclerosteosis phenotype. This model will be used for further investigation of the LRP4 regulating bone formation mechanism.

This work was published in the Journal of Bone and Mineral Research on May 6th 2017 by the group of Prof. Wim van Val located at the Center of Medical Genetics at the University of Antwerp in Belgium.

>> Online Publication