Format

Send to

Choose Destination
See comment in PubMed Commons below
Pediatr Nephrol. 2008 Nov;23(11):2095-9. doi: 10.1007/s00467-008-0898-7. Epub 2008 Jul 5.

Restoration of renal function in zebrafish models of ciliopathies.

Author information

1
Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

Abstract

The ciliopathies are a class of rare human genetic disease whose aetioligies lie in defective primary cilia. Typical ciliopathies include Bardet-Biedl syndrome (BBS), nephronophthisis (NPHP), Jeune, Joubert, oro-facial-digital (OFD1) and Meckel (MKS) syndromes. All ciliopathies have the common denominator of renal disease, often including tubular cysts. In this study, we have modelled a range of ciliopathies in zebrafish and shown in all cases that knocking down these genes causes cystic lesions in the kidney. We have identified two drugs, rapamycin and roscovitine, which ameliorate the renal phenotype, both morphologically and functionally. This is the first study in which zebrafish has been used to identify potential therapeutic modalities for ciliopathic renal disease, and the results pave the way for further investigations in mammalian models.

PMID:
18604564
DOI:
10.1007/s00467-008-0898-7
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center