A study, recently published online in the journal Neuron, demonstrated how the domino effect of one genetic error can contribute to hydrocephalus. “Most of the time, hydrocephalus is caused by some sort of physical blockage of the flow of cerebrospinal fluid … We demonstrated instead that malfunction of specific genes — the Dishevelleds (Dvl genes) — triggered hydrocephalus in our mouse models. These genes regulate the precise placement and alignment of cilia within ependymal cells that move cerebrospinal fluid throughout the brain,” said Wynshaw-Boris, MD, PhD, of Case Western Reserve University School of Medicine. The work in mice demonstrated how normal versus Dvl-deficient mice fared in terms of cilia function: The Dvl-deficient mice featured cilia that were disorganized and placed incorrectly and because their polarity was disrupted, and in turn, smooth fluid flow was missing. The organization of ependymal cells, the numbers of basal bodies and cilia, and the frequency of cilia movement were normal in these Dvl-deficient mice, but the polarities in the arrangement of cilia within and between ependymal cells were defective, due to defective polarities of the basal bodies that anchor the cilia. Fluorescent imaging revealed the sluggish flow of cerebrospinal fluid in the Dvl-deficient mice. To learn more about the study, click here.