Grant: Team Grant: E-Rare Joint Transnational Call

Genetic defects may cause congenital disfigurements of the face which may have profound effects on the appearance of the person leading to psychological complications. More importantly, these anomalies have serious effects on vital body functions, such as feeding and breathing. Our group has studied a form of abnormal facial development caused by mutations in matrix Gla protein (MGP) gene. MGP is produced in the cartilage and its absence leads to cartilage calcification. More specifically, we observe abnormal calcification of the nasal cartilage and cartilaginous joints in the head and calcification of the trachea of mice lacking MGP. In the current study, we will examine the structural features in MGP, which are necessary for its function and use gene therapy to correct the head and face problems in MGP-deficient mice. This knowledge will be very useful to prevent some forms of facial abnormalities in humans with genetic defects causing abnormal cartilage calcification.