Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice.

[achondroplasia]

Achondroplasia is a rare genetic disease characterized by abnormal bone development , resulting in short stature . It is caused by a single point mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR 3 ), which leads to prolonged activation upon ligand binding . To prevent excessive intracellular signaling and rescue the symptoms of achondroplasia , we have developed a recombinant protein therapeutic approach using a soluble form of human FGFR 3 (sFGFR 3 ), which acts as a decoy receptor and prevents FGF from binding to mutant FGFR 3 . sFGFR 3 was injected subcutaneously to newborn Fgfr 3 (ach /+) mice-the mouse model of achondroplasia -twice per week throughout the growth period during 3 weeks . Effective maturation of growth plate chondrocytes was restored in bones of treated mice , with a dose-dependent enhancement of skeletal growth in Fgfr 3 (ach /+) mice . This resulted in normal stature and a significant decrease in mortality and associated complications , without any evidence of toxicity . These results describe a new approach for restoring bone growth and suggest that sFGFR 3 could be a potential therapy for children with achondroplasia and related disorders .

Diseases
Validation

Diseases presenting "growth factor receptor" symptom

achondroplasia

aromatase deficiency

cholangiocarcinoma

dedifferentiated liposarcoma

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

kallmann syndrome

lymphangioleiomyomatosis

oral submucous fibrosis

proteus syndrome

severe combined immunodeficiency

wiskott-aldrich syndrome

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