ABSTRACT
Basal body and ciliary dysfunction can give rise to a multitude of different developmental and degenerative disorders that are referred to as ciliopathies. Although cilia are virtually ubiquitously present in vertebrates and mammals, the first human diseases linked to ciliary dysfunction mainly affect the kidney- leading to end stage renal disease. This has led early research efforts towards understanding the role of ciliary function in the kidney. As many of the syndromic ciliopathies such as Bardet Biedl Syndrome (BBS), Joubert Syndrome or Senior-Loken Syndrome present with symptoms in several organs, more recent studies have addressed the role of ciliary function in other organs. This chapter summarizes the information gained from spontaneous and targeted ciliary mutants such as the Oregon Ridge Polycystic Kidney (orpk) mouse or pancreas specific deletion of core ciliary genes. In addition, it discusses the evidence of signalling pathways compromised by impaired ciliary function in the pancreas. Although ciliary function has been implicated in many pathways, the majority of these links have been observed in tissues other than the pancreas or in cultured cells. This overview focuses on the phenotypes caused by ciliary impairment in the pancreas and attempts to reach conclusions about the role of cilia in this context. Emphasis will be placed on metabolic disease that at least partially arises from ciliary dysfunction in the pancreas.
