Structural insights into the assembly of cilia

Cilia, the little "hairs" attached to almost all cells of the human body, play a role in various cellular functions and cause diseases called ciliopathies when they are defective. Researchers from the group of Patrick Matthias and the FMI Structural Biology platform determined the structure, at near atomic resolution, of a protein complex that plays an essential role in the assembly of cilia - and causes ciliopathies when it is mutated. Cilia are hair-like structures that extend from the surface of almost all cell types of the human body. In addition to being "motors" that enable cell propulsion and fluid movement, cilia act as cellular antennae to sense environmental cues, for example during development, and are essential for passing on signals. In line with their crucial functions, genetic defects in cilia give rise to more than 30 inherited human diseases termed ciliopathies. These include single organ diseases and complex syndromes that can manifest as hydrocephaly, infertility, respiratory problems, diseases of the eye, heart, kidney, and more. The identification of the components involved in cilia-specific functions and of the molecular mechanisms underlying the various ciliopathies are likely to facilitate the development of novel therapeutic strategies.