The laboratory led by Michaela Bosáková has long focused on research of cilia. These tiny cellular projections play a key role in the development of the human body, and their proper function is essential for maintaining health.
In their latest publication, the recent Biomedical Sciences PhD graduate Alexandru Nită and his colleagues proposed a mechanism by which impaired cilia function can lead to various diseases. In a study published in the prestigious Journal of Cell Biology, the authors demonstrate that the cell receptor FGFR2 utilises cilia for its signalling function. Mutations of this receptor occur in several diseases, including cancers and developmental syndromes. The research revealed that the mutated FGFR2 localises incorrectly outside the cilium, resulting in incorrect signalling. This discovery could contribute to the development of targeted treatments for certain ciliopathies.