Bardet-Biedl syndrome: beyond the cilium.
The Bardet-Biedl syndrome (BBS) is a significant genetic cause of chronic and end-stage renal failure in children. Despite being a relatively rare recessive condition, BBS has come to prominence during the past few years owing to revelations of primary cilia dysfunction underlying pathogenesis. The study of this multi-system disorder, which includes obesity, cognitive impairment, genito-urinary tract malformations and limb deformities, is beginning to reveal insights into several aspects of mammalian development and organogenesis. Involvement of BBS proteins in disparate pathways such as the non-canonical Wnt and Sonic Hedgehog pathways is highlighting their interplay in disease pathogenesis. Here we review the recent developments in this emerging field, with the emphasis on the renal component of the syndrome and potential future directions.
Tobin
Jonathan L
JL
Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Beales
Philip L
PL
D020788:Bardet-Biedl Syndrome / Q000235:genetics / Q000378:metabolism*; D002648:Child; D002923:Cilia / Q000378:metabolism* / Q000473:pathology; D053823:Hedgehog Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008954:Models, Biological; D015398:Signal Transduction; D051153:Wnt Proteins / Q000235:genetics / Q000378:metabolism
D053823:Hedgehog Proteins; C509239:SHH protein, human; D051153:Wnt Proteins