Understanding Cilia and Their Role in Human Health

Chronic chest congestion, blurry vision, brain disorder, obesity, and kidney cysts – what is so common underlying\ all these disorders? The answer is - a possible malfunctioning of a tiny cellular organelle, called cilium. Known for more than a hundred years, the primary cilia have been considered a vestigial cellular organelle for a long part of the last century. Fortunately, no more, it is now one of the most extensively studied aspects of a eukaryotic cell. A lot of inherited rare genetic diseases, such as Bardet-Biedl Syndrome (BBS), Joubert Syndrome (JBTS), Polycystic Kidney Disease (PKD), etc., are now established to be caused by mutations in the genes coding for a ciliary protein. Why does the disruption of a cilium cause so many defects? This is because the cells receive and send signals through their cilia. Extensive research in the past two decades has revealed a complex mechanism that builds and maintains signal receptivity through the cilium by regulating the timing and quantity of protein transport into and out of the cilium. In this colloquium, I will discuss results from our laboratory indicating a possible feedback-driven mechanism underlying the logistics of intra-cilia transport.