Other Selected Grants
Ciliary proteins function project
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.