French researchers have developed a recombinant protein therapeutic approach, based on a soluble form of human fibroblast growth factor receptor 3 (sFGFR-3), to treat mice with abnormal bone development caused by achondroplasia. This genetic disorder, which is characterized by short stature, is caused by a single point mutation in the gene FGFR3, which leads to prolonged receptor activation upon FGF binding. sFGFR-3 prevents ligand binding to the mutant receptor, thereby preventing excessive intracellular signalling and rescuing the symptoms of achondroplasia.
Garcia, S. et al. Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. Sci. Transl. Med. 5, 203ra124 (2013)
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Soluble FGFR-3 as potential therapy for achondroplasia. Nat Rev Endocrinol 9, 692 (2013). https://doi.org/10.1038/nrendo.2013.194