Unravelling the complex role of cilia
Recent research has uncovered important roles for cilia. Acting like cell antennae, they can detect a wide variety of signals. As such, defects in their function can have wide-ranging effects on the physiology of many organs. The EU-funded EUCILIA project used animal models (Xenopus, zebrafish and mouse) as well as cell culture systems to unravel the role of cilia in cell function. The team of scientists focused on rare diseases including Bardet-Biedl (BBS) and nephronophthisis (NPHP) syndromes. Interestingly, these disorders are both characterised by polycystic kidney disease (PKD) and the researchers put special emphasis on the role of cilia in renal cyst development, a key symptom of PKD. Consortium scientists made a list of phenotypic changes found in the disease models. Moreover, they identified proteins involved in signalling pathways in these rare genetic disorders. The dynamics of protein trafficking and recruitment in relation to cilia were also elucidated to determine the effect of the mutations involved in diseases like BBS and NPHP. What is more, the fact that the cilia are present in all cell types suggests abnormalities in these structures could have a role in recent epidemics such as type I diabetes, hypertension and obesity. EUCILIA work has shed light on the role of proteins involved in Wnt signalling linked to tubulogenesis relevant to the validation of new therapeutic approaches. Results of the EUCILIA project including the mutant models of mice, zebrafish and Xenopus will be made available to the research community at large to expand on the substantial knowledge platform that the researchers generated. Further information can be found on the project website.