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A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies.
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History
Although non-motile or primary cilia were first described in 1898, "cell biologists largely ignored them." But "microscopists continued to document their presence in the cells of most vertebrate organisms." The "primary cilium was long considered--with few exceptions--to be a largely useless evolutionary vestige, a vestigial organelle. Recent research has revealed an initial understanding that cilia are essential to many of the body's organs"1.
Recent advances in mammalian genetic research have facilitated the elucidation of a molecular basis for a number of dysfunctional mechanisms in both motile and primary cilia structures of the cell. "Numerous critical developmental signaling pathways" essential to cellular development have been discovered. These are principally but not exclusively found in the non-motile or primary cilia. A number of common observable characteristics of mamallian genetic disorders and diseases are caused by ciliary dysgenesis and dysfunction. Once identified, these characteristics thus describe a set of hallmarks of a ciliopathy2.
Cilia have recently been implicated in a wide variety of human genetic diseases by "the discovery that numerous proteins involved in mammalian disease localize to the basal bodies and cilia." For example, in just a single area of human disease physiology, cystic renal disease, cilia-related genes and proteins have been identified to have causal effect in polycystic kidney disease, nephronophthisis, Senior-Loken syndrome type 5, orofaciodigital syndrome type 1 and Bardet-Biedl syndrome3.
Similar genes can result in a range of different diseases
"Just as different genes can contribute to similar diseases, so the same genes and families of genes can play a part in a range of different diseases." For example, in just two of the diseases caused by malfunctioning cilia, Meckel-Gruber syndrome and Bardet-Biedl syndrome, patients who carry mutations in genes associated with both diseases "have unique symptoms that are not seen in either condition alone." The genes linked to the two different conditions "interact with each other during development." Systems biologists are endeavoring to define functional modules containing multiple genes and then look at disorders whose phenotypes fit into such modules.4
Ciliopathies
"The phenotypic parameters that define a ciliopathy may be used to both recognize the cellular basis of a number of genetic disorders and to facilitate the diagnosis and treatment of some diseases of unknown etiology"2.
Syndromes and diseases with a known cilia-based causal mechanism
- Alstrom syndrome2
- Bardet-Biedl syndrome2,3
- early embryonic death (some cases)2
- hydrocephalus (some cases)2
- Joubert syndrome2
- Meckel-Gruber syndrome2
- nephronophthisis2,3
- orofaciodigital syndrome type 13
- polycystic kidney disease2,3
- polycystic liver disease2
- primary ciliary dyskinesia2
- retinal degeneration (some forms)2
- Senior-Loken syndrome3
Implied or suspected ciliopathies
- agenesis of the corpus callosum2
- anencephaly2
- breathing abnomalities2
- cerebellar vermis hypoplasia2
- Dandy-Walker malformation2
- diabetes2
- Ellis-van Creveld syndrome2
- exencephaly2
- eye movement abnormalities2
- liver disease2
- hypoplasia of the corpus callosum2
- hypotonia2
- reproductive sterility2
- Jeune asphyxiating thoracic dystrophy2
- Juvenile myoclonic epilepsy (JME) 5
- Kartagener syndrome2
- Marden-Walker syndrome2
- "mental retardation/developmental delay" or "other cognitive defects"2
- obesity2
- polydactyly2
- posterior encephalocele2
- respiratory dysfunction2
- "recurent respiratory infections"2
- renal cystic disease2
- retinitis pigmentosa (some forms)2
- sensorineural deafness2
- situs inversus/Isomerism2
- spina bifida2
Clinical symptoms
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Please help improve this section by expanding it. Further information might be found on the talk page. (July 2008) |
A wide variety of symptoms are potential clinical features of ciliopathy.
- Defective thermosensation or mechanosensation6.
- (add to the list, with citations, here)
Notes
- ^ Gardiner, Mary Beth (Sep 2005). "The Importance of Being Cilia". HHMI Bulletin (Howard Hughes Medical Institute) 18 (2), http://www.hhmi.org/bulletin/sept2005/features/cilia.html. Retrieved on 26 July 2008.
- ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet 7: 125–48. doi:. PMID 16722803, http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610.
- ^ a b c d e f Davenport JR, Yoder BK (2005). "An incredible decade for the primary cilium: a look at a once-forgotten organelle". Am. J. Physiol. Renal Physiol. 289 (6): F1159–69. doi:. PMID 16275743, http://ajprenal.physiology.org/cgi/content/abstract/289/6/F1159.
- ^ Hayden EC (2008). "Biological tools revamp disease classification" (dead link – Scholar search). Nature 453 (7196): 709. doi:. PMID 18528360, http://www.nature.com/news/2008/080604/full/453709a.html.
- ^ Delgado-Escueta AV (2007). "Advances in genetics of juvenile myoclonic epilepsies". Epilepsy Curr 7 (3): 61–7. doi:. PMID 17520076.
- ^ Tan PL, Barr T, Inglis PN, et al (2007). "Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function". Proc. Natl. Acad. Sci. U.S.A. 104 (44): 17524–9. doi:. PMID 17959775. PMC: 2077289, http://www.pnas.org/content/104/44/17524.
External links
- The Ciliary Proteome Web Page at Johns Hopkins
- Katsanis Lab publications at Johns Hopkins Medical Center
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