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PMID: 21210154 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Ciliopathies: an expanding disease spectrum.

Pediatric nephrology (Berlin, Germany) ·Vol. 26 ·No. 7 ·2011-07-00 ·Pages 1039-56

Waters AM, Beales PL

Abstract

Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliopathic features have been associated with mutations in over 40 genes to date. However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. The mechanisms underlying many of the disease phenotypes associated with ciliary dysfunction have yet to be fully elucidated. Several elegant studies have crucially demonstrated the dynamic ciliary localisation of components of the Hedgehog and Wnt signalling pathways during signal transduction. Given the critical role of the cilium in transducing "outside-in" signals, it is not surprising therefore, that the disease phenotypes consequent to ciliary dysfunction are a manifestation of aberrant signal transduction. Further investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes. Utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins in the manifestation of phenotypic features.

MeSH Terms
Animals Cilia/metabolism,pathology Ciliary Motility Disorders/genetics,metabolism,pathology Genetic Predisposition to Disease Humans Kidney Diseases/genetics,metabolism,pathology Liver Diseases/genetics,metabolism,pathology Mutation Phenotype Retinal Diseases/genetics,metabolism,pathology Signal Transduction/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Waters Aoife M
Department of Nephro-Urology, Great Ormond Street Hospital, London, WC1N 3JH, UK. [email protected]
Beales Philip L
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Article Info
Journal
Pediatric nephrology (Berlin, Germany)
Abbr.
Pediatr Nephrol
ISSN
1432-198X
DOI
10.1007/s00467-010-1731-7
Email
[email protected]
Published
2011-07-00
Epub
2011-00-06
Pages
1039-56
Language
English
Region
Germany
NLM ID
8708728
PMCID
PMC3098370
Subset
IM
Grants
Medical Research Council · G0802138 · United Kingdom
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1007/s00467-010-1731-7 PMC Full Text View journal details
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