Definition: Cilia are tiny hair-like organelles attached to the cell surface. They are located on almost all polarized cell types of the human body and have been adapted as versatile tools for various cellular functions, explaining why cilia-related disorders can affect many organ systems. Several molecular mechanisms involved in cilia-related disorders have been identified that affect the structure and function of distinct cilia types.
Cilia are hair-like organelles extending from the cell surface that execute motile (e.g. respiratory cilia) and/or sensory functions (e.g. renal monocilia). The basic ultrastructure of cilia and flagella has been well established by electron microscopy.
Types
primary ciliary dyskinesia
polycystic kidney diseases
male sterility
nephronophthisis complex-associated ciliopathies (17513324)
Bardet-Bield syndrome
Meckel syndrome
Joubert syndrome
Localization
hepatic ciliopathies
renal ciliopathies
retinal ciliopathies
References
Liver and kidney disease in ciliopathies. Gunay-Aygun M. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. PMID: 19876928
Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. PMID: 17955020
Hildebrandt F, Zhou W. Nephronophthisis-Associated Ciliopathies.
J Am Soc Nephrol. 2007 May 18; PMID: 17513324
Bisgrove BW, Yost HJ. The roles of cilia in developmental disorders and disease. Development. 2006 Nov;133(21):4131-43. PMID: 17021045
Fliegauf M, Omran H. Novel tools to unravel molecular mechanisms in cilia-related disorders. Trends Genet. 2006 May;22(5):241-5. PMID: 16564109
Davenport JR, Yoder BK. An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am J Physiol Renal Physiol. 2005 Dec;289(6):F1159-69. PMID: 16275743
Afzelius BA. Cilia-related diseases. J Pathol. 2004 Nov;204(4):470-7. PMID: 15495266
Ibanez-Tallon I, Heintz N, Omran H. To beat or not to beat : roles of cilia in development and disease. Hum Mol Genet. 2003 Apr 2 ;12(Suppl 1) :R27-35. PMID : 12668594
