In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the impaired functioning of ciliated cells. Its diagnosis is based on the analysis of the structure and functioning of cilia present in the respiratory epithelium (RE) of the patient. Abnormalities of cilia caused by hereditary mutations closely resemble and often overlap with defects induced by the environmental factors. As a result, proper diagnosis of PCD is difficult and may require repeated sampling of patients' tissue, which is not always possible. The culturing of differentiated cells and tissues derived from the human RE seems to be the best way to diagnose PCD, to study genotype-phenotype relations of genes involved in ciliary dysfunction, as well as other aspects related to the functioning of the RE. In this review, different methods of culturing differentiated cells and tissues derived from the human RE, along with their potential and limitations, are summarized. Several considerations with respect to the factors influencing the process of in vitro differentiation (cell-to-cell interactions, medium composition, cell-support substrate) are also discussed.
Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland. zuza@man.poznan.pl
Zuzanna
Z
Bukowy
Ewa
E
Ziętkiewicz
Michał
M
Witt
D002478:Cells, Cultured; D002925:Ciliary Motility Disorders / Q000235:genetics*; D030342:Genetic Diseases, Inborn; D006801:Humans; D012137:Respiratory System / Q000503:physiopathology*