Ciliopathies are a group of rare genetic disorders that present with a high degree of phenotypic variability. Investigating the underlying mechanism, European scientists unravelled novel roles for implicated proteins.
Polycystic kidney disease is characterised by abnormal renal tubules and lumen disorganisation caused primarily by cilia dysfunction. Cilia constitute cellular projections used as sensory organelles or for movement, but emerging evidence suggests additional non-ciliary functions that may contribute to the development of disease.
Further details: Novel role of cilia proteins in ciliopathies