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Jul 1, 2016

The soluble factor sFRP4 is crucial for cortical bone formation

Genetic ablation of the soluble frizzled-related protein 4, sFRP4, is the genetic basis of Pyle disease.
Category: General
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Individuals with Pyle disease harbour biallelic inactivating mutations in the SFRP4 gene. The study of sFRP4 biology in mice coupled to the observation on Pyle disease patients reveal the crucial role of sFRP4 in repressing sclerostin and inducing the transformation of spongious bone into cortical bone over wnt and BMP signalling pathways. The effectiveness of antibodies to sclerostin in the mouse model heeds a promise of therapy for individuals for Pyle disease but also for other forms of bone fragility with reduced cortical bone mass, such as severe Osteogenesis Imperfecta. The results have been published in the June 30 issue of the New England Journal of Medicine (PDF).

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