'Motile' (or moving) cilia are found in the lungs, respiratory tract and middle ear. These cilia have a rhythmic waving or beating motion. They work, for instance, to keep the airways clear of mucus and dirt, allowing us to breathe easily and without irritation. They also help propel sperm.
Primary cilia appear typically as single appendages microtubules on the apical surface of cells and lack the central pair of microtubules (e.g. in kidney tubules).
Structurally, each cilium comprises a microtubular backbone - the ciliary axoneme - surrounded by plasma membrane (see figure below).
Motile cilia are characterized by a typical ’9+2’ architecture with nine outer microtubule doublets and a central pair of microtubules (e.g bronchi).
Primary cilia appear typically as single appendages microtubules on the apical surface of cells and lack the central pair of microtubules (e.g. in kidney tubules).
Ciliary proteins are synthesized in the cell body and must be transported to the tip of the axoneme. This is achieved by Intraflagellar Transport (IFT), an ordered and highly regulated anterograde and retrograde translocation of polypeptide complexes (IFT particles) along the length of the ciliary axoneme.
Impact of Defective Cilia
Defective and dysfunctional functioning in motile and non-motile cilia result in a large number of symptoms and disorders which have significant impact on those affected.
Defective and dysfunctional functioning in motile and non-motile cilia affects multiple systems, causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes. These symptoms have significant impact on those affected; some are devastating, most are life-threatening.
The diagram indicates the effects and a non-exhaustive summary of some of these symptoms is provided below. For information on known and identified ciliopathy syndromes and diseases, see the Ciliopathies section of this site.
Lung / airway abnormalities
Motile cilia line the respiratory airways, to help clear mucus and dust. As well as primary ciliary dyskinesia, sinusitis, rhinitis, bronchitis and otitis have all been associated with motile cilia dysfunction.
Renal anomalies, eg cystic kidneys
Autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive PKD (ARPKD) and nephronophthisis (NPHP) are the major inherited cystic kidney diseases.
The cilia in the epithelial cells in the kidney point into the urine and sense the flow. This stops cells dividing and send a signal to control urine concentration. When the cilia are defective, there is no signal and too much cell division, resulting in uncontrolled cyst formation..
Retinal degeneration, rod cone dystrophy and retinitis pigmentosa
Cilia are found inside photoreceptors in the eyes. They connect the inner segment to the outer segment and carry proteins made in the inner segment to outer segment. Malfunction stops transport of vital proteins, and the photoreceptors die.
Anosmia
Airway congestion, glue ear, hearing loss.
Congenital heart defects
Cilia are important during development of the heart. Flow of fluid is sensed by cilia leading to changes of cell growth. Failure of cilia leads to left left-right asymmetry, eg situs inversus.