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Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a recessive heterogeneous disorder of motile cilia, affecting one per 15,000–30,000 individuals; however, the frequency of this disorder is likely underestimated. Even though more than 40 genes are currently associated with PCD, in the case of approximately 30% of...

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Autores principales: Poprzeczko, Martyna, Bicka, Marta, Farahat, Hanan, Bazan, Rafal, Osinka, Anna, Fabczak, Hanna, Joachimiak, Ewa, Wloga, Dorota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952885/
https://www.ncbi.nlm.nih.gov/pubmed/31835861
http://dx.doi.org/10.3390/cells8121614
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author Poprzeczko, Martyna
Bicka, Marta
Farahat, Hanan
Bazan, Rafal
Osinka, Anna
Fabczak, Hanna
Joachimiak, Ewa
Wloga, Dorota
author_facet Poprzeczko, Martyna
Bicka, Marta
Farahat, Hanan
Bazan, Rafal
Osinka, Anna
Fabczak, Hanna
Joachimiak, Ewa
Wloga, Dorota
author_sort Poprzeczko, Martyna
collection PubMed
description Primary ciliary dyskinesia (PCD) is a recessive heterogeneous disorder of motile cilia, affecting one per 15,000–30,000 individuals; however, the frequency of this disorder is likely underestimated. Even though more than 40 genes are currently associated with PCD, in the case of approximately 30% of patients, the genetic cause of the manifested PCD symptoms remains unknown. Because motile cilia are highly evolutionarily conserved organelles at both the proteomic and ultrastructural levels, analyses in the unicellular and multicellular model organisms can help not only to identify new proteins essential for cilia motility (and thus identify new putative PCD-causative genes), but also to elucidate the function of the proteins encoded by known PCD-causative genes. Consequently, studies involving model organisms can help us to understand the molecular mechanism(s) behind the phenotypic changes observed in the motile cilia of PCD affected patients. Here, we summarize the current state of the art in the genetics and biology of PCD and emphasize the impact of the studies conducted using model organisms on existing knowledge.
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spelling pubmed-69528852020-01-23 Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia Poprzeczko, Martyna Bicka, Marta Farahat, Hanan Bazan, Rafal Osinka, Anna Fabczak, Hanna Joachimiak, Ewa Wloga, Dorota Cells Review Primary ciliary dyskinesia (PCD) is a recessive heterogeneous disorder of motile cilia, affecting one per 15,000–30,000 individuals; however, the frequency of this disorder is likely underestimated. Even though more than 40 genes are currently associated with PCD, in the case of approximately 30% of patients, the genetic cause of the manifested PCD symptoms remains unknown. Because motile cilia are highly evolutionarily conserved organelles at both the proteomic and ultrastructural levels, analyses in the unicellular and multicellular model organisms can help not only to identify new proteins essential for cilia motility (and thus identify new putative PCD-causative genes), but also to elucidate the function of the proteins encoded by known PCD-causative genes. Consequently, studies involving model organisms can help us to understand the molecular mechanism(s) behind the phenotypic changes observed in the motile cilia of PCD affected patients. Here, we summarize the current state of the art in the genetics and biology of PCD and emphasize the impact of the studies conducted using model organisms on existing knowledge. MDPI 2019-12-11 /pmc/articles/PMC6952885/ /pubmed/31835861 http://dx.doi.org/10.3390/cells8121614 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Poprzeczko, Martyna
Bicka, Marta
Farahat, Hanan
Bazan, Rafal
Osinka, Anna
Fabczak, Hanna
Joachimiak, Ewa
Wloga, Dorota
Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
title Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
title_full Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
title_fullStr Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
title_full_unstemmed Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
title_short Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia
title_sort rare human diseases: model organisms in deciphering the molecular basis of primary ciliary dyskinesia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952885/
https://www.ncbi.nlm.nih.gov/pubmed/31835861
http://dx.doi.org/10.3390/cells8121614
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