Choroid plexus disruption in CDD

Awardee: Michela Fagiolini

Institution: Boston Children's Hospital

Grant Amount: $50,240.00

Funding Period: February 1, 2023 - January 31, 2024

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Summary:

In the absence of CDKL5 we discovered a significant disruption of Choroid Plexus (ChP) organization at the level of tight junctions and polarity of selective cellular transporters in the epithelial cells. These preliminary results raise the question whether the loss of CDKL5 negatively affects the function of the blood-cerebrospinal fluid (CSF)-barrier and the composition of the CSF. The ChP-CSF system delivers important growth-active molecules throughout the brain, guaranteeing its proper maturation and functioning. Here we propose 1) a detailed characterization of the development of the ChP epithelial cells in the absence of CDKL5 and 2) a multi-omics approach to profile both CSF and ChP in CDKL5 deficient disorder (CDD) mice. Due to the confined but accessible localization of the ChP, our results may establish the ChP as a new tractable target for CDD intervention.