Restoration of renal function in zebrafish models of ciliopathies
作者： Jonathan L. Tobin , Philip L. Beales
DOI: 10.1007/S00467-008-0898-7
关键词: Kidney cysts 、 Genetics 、 Bioinformatics 、 Cilium 、 Nephronophthisis 、 Ciliopathies 、 Zebrafish 、 Biology 、 Ciliopathy 、 Kidney 、 Nephrology 、 Internal medicine 、 Pediatrics, Perinatology, and Child Health
摘要: The ciliopathies are a class of rare human genetic disease whose aetioligies lie in defective primary cilia. Typical include Bardet-Biedl syndrome (BBS), nephronophthisis (NPHP), Jeune, Joubert, oro-facial-digital (OFD1) and Meckel (MKS) syndromes. All have the common denominator renal disease, often including tubular cysts. In this study, we modelled range zebrafish shown all cases that knocking down these genes causes cystic lesions kidney. We identified two drugs, rapamycin roscovitine, which ameliorate phenotype, both morphologically functionally. This is first study has been used to identify potential therapeutic modalities for ciliopathic results pave way further investigations mammalian models.
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