Role of ciliary proteins in pathogenesis of cilia-related disorders

The involvement of mutations of ciliary proteins, their dysfunction, erratic cytoplasmic assembly, defective flagellar transport, etc. on pathomechanism of primary ciliary dyskinesia and retinitis pigmentosa will be studied. Both autosomal recessive and X-linked forms of disorders will be investigated. The research methods applied will include in vitro analysis of ciliary proteins in newly developing respiratory cilia (in vitro ciliogenesis), immunofluorescence staining of ciliary proteins and sequencing of genes coding for proteins involved or potentially involved in cilia function/assembly. Involvement of these proteins in a pathomechanism of human retinal dysfunction will be deduced. Also, proteins involved in human visual processes will be analyzed. Particular effort will be placed on introducing for the first time in the country a high speed video analysis of cilia motility; correlations between the type of dismotility with genetic/structural factors will be performed. Analysis of in vitro ciliogenesis will be offered to clinical partners as a modern tool of functional diagnosis in primary PCD suspects.

The program is being conducted by Prof. Michal Witt in collaboration with Prof. Heimut Omran from Department of Pediatrics and Adolescent Medicine, University of Freiburg, Germany.