Molecular hallmarks of hydrocephalus
Year: 2025
Type: article
Abstract: Hydrocephalus (HC) is a failure of brain and cerebrospinal fluid (CSF) homeostasis often associated with dilation of the CSF-filled ventricles (ventriculomegaly). Hallmarks of HC include aberrant CSF dynamics, neural stem cell dysfunction resulting in impaired neurogenesis and corticogenesis, biomechanical instability at the brain-CSF interface, and disrupted synaptogenesis and neural circuitry. Pleiotropic mechanisms, including genetic and environmental insults to the brain, contribute to neurodevelopmental comorbidities. Hypothesis generation from genome-wide, single-cell multi-omic analyses coupled to experimental validation using induced pluripotent stem cell-derived cerebral organoids will refine molecular classification of HC subtypes and may lead to precision-based surgical and pharmacologic treatments.
Source: Science Translational Medicine
Institutions: University of Cape Town, University of Alabama at Birmingham, Stanford University, University of Virginia, Broad Institute, Beth Israel Deaconess Medical Center, Harvard University, Boston Children's Hospital, MRC Laboratory of Molecular Biology, University of Cambridge, Medical Research Council, Stanford Medicine, Massachusetts General Hospital, Manton Center for Orphan Disease Research
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
Awards: G1649372110, G2343212525, Understanding the mechanisms of congenital hydrocephalus using genomic sequencing approaches, G486115705, G5587526097, Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus, G7435695911, How cerebrospinal fluid (CSF) potassium supports brain development and activity, Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research Center, Genetics and Developmental Biology Training Program, G981648265
OpenAlex ID: W4411019555