Research UPDATE: Genetic Mutation Found as a Cause of Neonatal Hydrocephalus

A recent study has shown that a specific type of neonatal hydrocephalus can be caused by defects in cellular signaling pathways. The study, out of the University of Iowa, is being led by Val C. Sheffield, MD, Ph.D, and his research team using a mouse model of Bardet-Biedl syndrome (BBS). BBS is a rare disorder that can cause hydrocephalus, among other conditions.

The researchers initially believed that a defect in the motile cilia, which moves the cerebrospinal fluid (CSF) through the ventricles, were to blame for the development of hydrocephalus. But they found that the motile cilia were not significantly abnormal.  Calvin Carter, a graduate student in Dr. Sheffield’s lab and Timothy Vogel, MD, began to investigate further into why BBS was causing hydrocephalus.  They found that the BBS mice had defects in their gene function which caused increased apoptosis (cell death) and decreased cell proliferation which resulted in hydrocephalus. Furthermore, they found that the administration of lithium to pregnant mice whose pups were carrying the BBS mutation prevented hydrocephalus in the pups. This indicates that lithium could have the potential to treat this specific form of neonatal hydrocephalus.

The study’s findings are significant because they identify a potential genetic mutation as a cause of neonatal hydrocephalus, as opposed to a physiological defect. Traditional approaches to understanding and treating hydrocephalus have revolved around the brain’s structure and the consideration that hydrocephalus can be viewed as a “plumbing” problem.  The discovery that lithium could ameliorate the effects of these mutations indicates a potential treatment for this specific type of genetic neonatal hydrocephalus.

Another aspect of this study that is important for hydrocephalus research is the involvement of a world-renowned research institute. One of the researchers working on the study, Dr. Val Sheffield, is a Howard Hughes Medical Institute Investigator (HHMI). There are approximately 330 HHMI investigators in the world.  The HHMI urges researchers to take risk and to embrace the unknown. To have an HHMI investigator delve into the problem of hydrocephalus raises the profile of hydrocephalus and validates it as a valuable area of research in the scientific community. As an association, our hope is that more and more researchers will take note,   further stimulating the number of research studies on hydrocephalus.

Click below to read an interview with Dr. Sheffield in Neurology Today.

Neurology Today Article, February 7, 2013