Statin treatment for FGFR3 skeletal dysplasia phenotypes.

Posted by & filed under Part 22: CONNECTIVE TISSUE.

A paper published in Nature in September 2014 suggests that statins could represent a medical treatment for infants and children with thanatophoric dysplasia type I (TD1) and achondroplasia (ACH) due to gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3). The authors showed that statin treatment can rescue patient-specific induced pluripotent stem cell (iPSC) models and a mouse model of FGFR3 skeletal dysplasia. The chondrogenic differentiation of TD1 iPSCs and ACH iPSCs resulted in the formation of degraded cartilage. We found that statins could correct the degraded cartilage in both TD1 and ACH chondrocytes. Importantly, treatment of ACH model mice with statin led to a significant recovery of bone growth.

Posted by Nicola Bruneti-Pierri

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