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

Cells
Martyna PoprzeczkoDorota Wloga

Abstract

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.

References

Dec 1, 1981·The Journal of Cell Biology·I R Gibbons
Jan 1, 1981·The Journal of Cell Biology·B HuangD J Luck
Jun 13, 2001·The Journal of Cell Biology·P YangW S Sale
Mar 26, 2002·Human Molecular Genetics·Inés Ibañez-TallonNathaniel Heintz
Sep 5, 2002·International Review of Cytology·Ritsu Kamiya
Apr 30, 2003·Human Molecular Genetics·Brian E Davy, Michael L Robinson
May 15, 2003·Ultrastructural Pathology·Birgitta CarlénUnne Stenram
May 27, 2003·Investigative Ophthalmology & Visual Science·Dong-Hyun HongTiansen Li
Dec 6, 2003·American Journal of Respiratory and Critical Care Medicine·Peadar G NooneMichael R Knowles
Jun 15, 2004·Molecular Biology of the Cell·Ramila S Patel-KingStephen M King
Aug 5, 2004·Journal of Cell Science·Hui Zhang, David R Mitchell
Mar 8, 2005·American Journal of Respiratory and Critical Care Medicine·Manfred FliegaufHeymut Omran
Jul 7, 2005·The Journal of Cell Biology·Gregory J PazourGeorge B Witman
Mar 2, 2006·Journal of Cell Science·Pinfen YangGeorge B Witman
Apr 22, 2006·American Journal of Respiratory and Critical Care Medicine·Nada HornefHeymut Omran
Jul 22, 2006·American Journal of Respiratory and Critical Care Medicine·Maimoona A ZariwalaMichael R Knowles
Aug 19, 2006·Science·Daniela NicastroJ Richard McIntosh
Oct 3, 2006·Annual Review of Physiology·Peter Satir, Søren Tvorup Christensen
Jan 24, 2007·Traffic·Søren T ChristensenPeter Satir
Feb 14, 2007·The Journal of Cell Biology·Karl-Ferdinand Lechtreck, George B Witman
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Bénédicte DuriezSerge Amselem
Nov 6, 2007·Advances in Experimental Medicine and Biology·David R Mitchell
Nov 28, 2007·Molecular and Cellular Biology·Lance LeeMark D Fleming
Feb 6, 2008·The Journal of Cell Biology·Karl-Ferdinand LechtreckGeorge B Witman

❮ Previous
Next ❯

Citations

Sep 12, 2020·Cellular and Molecular Life Sciences : CMLS·Lance Lee, Lawrence E Ostrowski
Jun 5, 2021·Scientific Reports·Ewa JoachimiakDorota Wloga
Aug 10, 2021·Frontiers in Physiology·Mylarappa NingappaRakesh Sindhi
Aug 19, 2021·Journal of Cellular and Molecular Medicine·Ying XiongHao Deng
Aug 28, 2021·Cells·Dinu AntonyMiriam Schmidts
Aug 28, 2021·International Journal of Molecular Sciences·Nina StevanovicMarina Andjelkovic
Oct 26, 2021·EMBO Reports·Jelte van der VaartHans Clevers
Oct 16, 2021·Journal of Cell Science·Kai CaiDaniela Nicastro

❮ Previous
Next ❯

Methods Mentioned

BETA
transmission
biopsy
gene knock-out
biopsies
immunoprecipitation
electron tomography
GTPase

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Translational Science of Rare Diseases
Margaret W LeighMichael R Knowles
American Journal of Respiratory and Critical Care Medicine
Michael R KnowlesMaimoona A Zariwala
Journal of Medical Genetics
Małgorzata KurkowiakMichał Witt
Paediatric Respiratory Reviews
Amjad HoraniSteven L Brody
American Journal of Respiratory and Critical Care Medicine
Adam J ShapiroKathryn Briones
© 2022 Meta ULC. All rights reserved