Skeletal Biology

Prof. Dr. Sc. Nat. Beat Trueb

The group of Prof. Trueb is investigating the function of a novel growth factor receptor, called FGFRL1, during development of the musculoskeletal system.

FGFRL1 was found to be primarily expressed in cartilage and the diaphragm muscle. The receptor interacts with morphogens of the FGF family and stimulates the cells to differentiate and to fuse. Cell-cell fusion is an important biological process that is involved in fertilization (fusion of sperm and egg), the formation of bones (fusion of macrophages to osteoclasts) and skeletal muscles (fusion of myoblast to myotubes and contracting myofibers). Studies with laboratory animals demonstrated that mice lacking the novel receptor (knock-out mice) die at birth because they cannot form a functional diaphragm muscle. A patient with a frame-shift mutation in the novel receptor gene presents with craniosynostosis and radio-ulnar synostosis. It is the goal of our research group to unravel the working mechanism of the novel receptor in order to find therapeutic ways for a better treatment of such patients.

Our research efforts are supported by the Swiss National Science Foundation and the Swiss Foundation for Research on Muscular Diseases.

 

For more information see:

Trueb B (2011) Biology of FGFRL1, the fifth fibroblast growth factor receptor. Cell Mol Life Sci 68, 951-964

Steinberg F, Gerber SD, Rieckmann T and Trueb B (2010) Rapid fusion and syncytium formation of heterologous cells upon expression of the FGFRL1 receptor. J Biol Chem 285, 37704-37715

Steinberg F, Zhuang L, Beyeler M, Kalin RE, Mullis PE, Brandli AW and Trueb B (2010) The FGFRL1 receptor is shed from cell membranes, binds FGFs and antagonizes FGF signaling in Xenopus embryos. J Biol Chem 285, 2193-2202