Ciliopathies are inherited human disorders that affect primary cilia genes. The authors of this study took part in our Explorer Program. Read on to discover what they found.
Ciliary motility is essential for moving fluids and particles over epithelial surfaces. Frequently, the limitations of quantitative tests and the lack of awareness delay the diagnosis of cilia diseases. In this blog post, we present antibodies- and a 3D imaging-based quantitative super-resolution toolbox for the diagnosis of primary ciliary dyskinesia, a disorder of motile cilia. The authors of this study took part in our Explorer Program. Read on to discover what they found.
Motile and non‐motile cilia
Cilia are slender, microscopic, highly conserved hair-like structures or organelles that line the surfaces of individual cells of nearly all mammalian cells. Cilia beat in rhythmic waves and use sweeping motions, moving liquids along internal epithelial tissue in animals. Recent discoveries have revealed that cilia have crucial roles in the signal transduction pathways that regulate intracellular calcium levels and maintain cellular homeostasis. The dysfunction of cilia causes diseases known as ciliopathies.
There are two types of cilia: motile and non-motile cilia. The non-motile cilia (also called primary cilia) typically serve as sensory organelles. Whereas primary cilia have relatively little additional structure, motile cilia have both a central doublet of microtubules as well as inner and outer dynein arms and radial spokes, which are all needed for motility.
There is a third type of cilium, known as nodal cilia, but this is only transiently present in the early embryo and is crucial in the establishment of left-to-right body asymmetry.