Hydrocephalus — a build-up of cerebrospinal fluid (CSF) in the brain — affects about 1 in 1,000 babies born in the United States. Current treatments are limited to surgical interventions.
Andrew Hale, MD, PhD, Eric Gamazon, PhD, and colleagues explored the genetic basis of hydrocephalus using BioVU, Vanderbilt’s DNA biobank linked to de-identified electronic health records, and a tool called PrediXcan that computes tissue-specific, genetically determined gene expression. They found that decreased expression of the gene MAEL was associated with hydrocephalus and validated this finding in brain imaging and genomics data from the UK Biobank.
The researchers also identified other genes linked to brain structure and integrity and supported a role for these genes in hydrocephalus with findings in a mouse model and in CSF samples from babies with hydrocephalus.
The results, published in Cell Reports, identify genes and signaling pathways associated with hydrocephalus and lay the groundwork for molecular studies that may identify targets for pharmacological treatments.
This research was supported by grants from the National Institutes of Health (GM007347, HL143826, HG010718, HG011138, GM140287, HL133559).
