Cilia-related diseases

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 defec...

Full description

Saved in:
Bibliographic Details
Published in:The Journal of pathology 2004-11, Vol.204 (4), p.470-477
Main Author: Afzelius, BA
Format: Article
Language:English
Subjects:
Cilia - genetics
Cilia - pathology
Cilia - physiology
Ciliary Motility Disorders - genetics
Ciliary Motility Disorders - physiopathology
Cytoskeleton - genetics
Cytoskeleton - physiology
Female
Humans
hydrocephalus
Hydrocephalus - genetics
Hydrocephalus - physiopathology
immotile-cilia syndrome
infertility
Infertility, Female - genetics
Infertility, Female - physiopathology
Infertility, Male - genetics
Infertility, Male - physiopathology
Male
Olfaction Disorders - genetics
Olfaction Disorders - physiopathology
primary ciliary dyskinesia
Respiratory Tract Infections - etiology
Respiratory Tract Infections - physiopathology
retinitis pigmentosa
Retinitis Pigmentosa - genetics
Retinitis Pigmentosa - physiopathology
Review
situs inversus
Situs Inversus - genetics
Situs Inversus - physiopathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
ISSN:0022-3417
1096-9896
DOI:10.1002/path.1652