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PMID: 15495266 Published · ppublish English Journal Article Review

Cilia-related diseases.

The Journal of pathology ·Vol. 204 ·No. 4 ·2004-11-00 ·Pages 470-7

Afzelius BA

Abstract

There are at least eight categories of cilia in the human body and malfunctioning of any one or several of them will have different consequences for the patient. A genetic error of the respiratory cilia (9 + 2) is the cause of the airways disease named immotile-cilia syndrome (or PCD), whereas defective ependymal cilia (9 + 2) carries an increased risk of hydrocephalus. When the so-called nodal cilia (9 + 0) of the early embryo are malfunctioning, there is a random determination of asymmetry of the heart and visceral organs ('a 50% risk of situs inversus'). Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells-this is the cause of retinitis pigmentosa. Ciliary malfunctions due to genetic errors tend to be systemic and life-long, whereas acquired diseases are local and may be temporary only.

MeSH Terms
Cilia/genetics,pathology,physiology Ciliary Motility Disorders/genetics,physiopathology Cytoskeleton/genetics,physiology Female Humans Hydrocephalus/genetics,physiopathology Infertility, Female/genetics,physiopathology Infertility, Male/genetics,physiopathology Male Olfaction Disorders/genetics,physiopathology Respiratory Tract Infections/etiology,physiopathology Retinitis Pigmentosa/genetics,physiopathology Situs Inversus/genetics,physiopathology
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Afzelius B A
Department of Zoophysiology, Arrhenius Laboratories F3, Stockholm University, SE-106 91 Stockholm, Sweden. [email protected]
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Article Info
Journal
The Journal of pathology
Abbr.
J Pathol
ISSN
0022-3417
DOI
10.1002/path.1652
Email
[email protected]
Published
2004-11-00
Pages
470-7
Language
English
Region
England
NLM ID
0204634
PMCID
PMC7167937
Subset
IM
External Links
PubMed source DOI: 10.1002/path.1652 PMC Full Text View journal details
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