Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male infertility. The pulmonary phenotype in PCD is caused by the impaired motility of cilia in the respiratory epithelium, due to ultr...

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Autores principales:	Maciej Geremek, Ewa Ziętkiewicz, Marcel Bruinenberg, Lude Franke, Andrzej Pogorzelski, Cisca Wijmenga, Michał Witt
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/2a06e777525841138ad257adcf4b7d9d
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spelling	oai:doaj.org-article:2a06e777525841138ad257adcf4b7d9d2021-11-18T08:33:24ZCiliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.1932-620310.1371/journal.pone.0088216https://doaj.org/article/2a06e777525841138ad257adcf4b7d9d2014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24516614/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male infertility. The pulmonary phenotype in PCD is caused by the impaired motility of cilia in the respiratory epithelium, due to ultrastructural defects of these organelles. We hypothesized that defects of multi-protein ciliary complexes should be reflected by gene expression changes in the respiratory epithelium. We have previously found that large group of genes functionally related to cilia share highly correlated expression pattern in PCD bronchial tissue. Here we performed an explorative analysis of differential gene expression in the bronchial tissue from six PCD patients and nine non-PCD controls, using Illumina HumanRef-12 Whole Genome BeadChips. We observed 1323 genes with at least 2-fold difference in the mean expression level between the two groups (t-test p-value <0.05). Annotation analysis showed that the genes down-regulated in PCD biopsies (602) were significantly enriched for terms related to cilia, whereas the up-regulated genes (721) were significantly enriched for terms related to cell cycle and mitosis. We assembled a list of human genes predicted to encode ciliary proteins, components of outer dynein arms, inner dynein arms, radial spokes, and intraflagellar transport proteins. A significant down-regulation of the expression of genes from all the four groups was observed in PCD, compared to non-PCD biopsies. Our data suggest that a coordinated down-regulation of the ciliome genes plays an important role in the molecular pathomechanism of PCD.Maciej GeremekEwa ZiętkiewiczMarcel BruinenbergLude FrankeAndrzej PogorzelskiCisca WijmengaMichał WittPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 2, p e88216 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Maciej Geremek Ewa Ziętkiewicz Marcel Bruinenberg Lude Franke Andrzej Pogorzelski Cisca Wijmenga Michał Witt Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
description	Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male infertility. The pulmonary phenotype in PCD is caused by the impaired motility of cilia in the respiratory epithelium, due to ultrastructural defects of these organelles. We hypothesized that defects of multi-protein ciliary complexes should be reflected by gene expression changes in the respiratory epithelium. We have previously found that large group of genes functionally related to cilia share highly correlated expression pattern in PCD bronchial tissue. Here we performed an explorative analysis of differential gene expression in the bronchial tissue from six PCD patients and nine non-PCD controls, using Illumina HumanRef-12 Whole Genome BeadChips. We observed 1323 genes with at least 2-fold difference in the mean expression level between the two groups (t-test p-value <0.05). Annotation analysis showed that the genes down-regulated in PCD biopsies (602) were significantly enriched for terms related to cilia, whereas the up-regulated genes (721) were significantly enriched for terms related to cell cycle and mitosis. We assembled a list of human genes predicted to encode ciliary proteins, components of outer dynein arms, inner dynein arms, radial spokes, and intraflagellar transport proteins. A significant down-regulation of the expression of genes from all the four groups was observed in PCD, compared to non-PCD biopsies. Our data suggest that a coordinated down-regulation of the ciliome genes plays an important role in the molecular pathomechanism of PCD.
format	article
author	Maciej Geremek Ewa Ziętkiewicz Marcel Bruinenberg Lude Franke Andrzej Pogorzelski Cisca Wijmenga Michał Witt
author_facet	Maciej Geremek Ewa Ziętkiewicz Marcel Bruinenberg Lude Franke Andrzej Pogorzelski Cisca Wijmenga Michał Witt
author_sort	Maciej Geremek
title	Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
title_short	Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
title_full	Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
title_fullStr	Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
title_full_unstemmed	Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
title_sort	ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/2a06e777525841138ad257adcf4b7d9d
work_keys_str_mv	AT maciejgeremek ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients AT ewazietkiewicz ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients AT marcelbruinenberg ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients AT ludefranke ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients AT andrzejpogorzelski ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients AT ciscawijmenga ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients AT michałwitt ciliarygenesaredownregulatedinbronchialtissueofprimaryciliarydyskinesiapatients
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Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients.

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