Mutations in a number of genes coding for cilia structure, function, and regulation, including CC2D2A, TMEM67, MKS1, and SNX27, have been associated with congenital hydrocephalus; these are called ciliopathies. These genes can affect either motile or primary cilia.
Motile cilia move in a rhythmic motion and thus aid in the movement of fluid. An example of ciliated cells are ependymal cells which line the ventricles of the brain. The beating of these cilia generate proper CSF flow. It has been thought that a disruption in this ciliary beating by irregular planar cell polarity (PCP) causes the accumulation of CSF resulting in hydrocephalus. PCP ensures that cells are oriented and aligned properly. In ependymal cells, proper PCP is necessary to ensure the proper direction of ciliary beating and CSF flow.
However, current research, including HA funded research, is revealing that problems in the primary cilia is also associated with hydrocephalus. Primary cilia have a sensory role. The organelle receives both chemical and mechanical signals from the environment as well as other cells so that the nucleus can execute the appropriate cellular response. Primary cilia play a key role in brain development. The mechanism by which altered signaling through the primary cilia causes hydrocephalus is still being investigated.
Read about current research into ciliopathies:
The role of neural progenitor cells in the development of neonatal hydrocephalus
Timothy Vogel, MD, Hackensack University Medical Center
2013 Hydrocephalus Association Discovery Science Award Recipient
Understanding Molecular Mechanisms of Posthemorrhagic Hydrocephalus of Prematurity (PHHP)
Shenandoah Robinson, MD, Johns Hopkins University
2016 Hydrocephalus Association nnovator Award Recipient
Genetic Modifiers of Congenital Hydrocephalus
Lance Lee, PhD, Sanford Research
2015 Hydrocephalus Association Innovator Award Recipient
Read our other blogs about genetic causes of hydrocephalus: