Altered Expression of Several Molecular Mediators of Cerebrospinal Fluid Production in Hyp Mice.

ABSTRACT:

Context

X-linked hypophosphatemia (XLH) is a genetic disease, causing life-long hypophosphatemia due to overproduction of fibroblast growth factor 23 (FGF23). XLH is associated with Chiari malformations, cranial synostosis, and syringomyelia. FGF23 signals through FGFR1c and requires a coreceptor, α-Klotho, which is expressed in the renal distal convoluted tubules and the choroid plexus (ChP). In the ChP, α-Klotho participates in regulating cerebrospinal fluid (CSF) production by shuttling the sodium/potassium adenosine triphosphatase (Na⁺/K⁺-ATPase) to the luminal membrane. The sodium/potassium/chloride cotransporter 1 (NKCC1) also makes a substantial contribution to CSF production.

Objective

Since CSF production has not been studied in XLH, we sought

SUBMITTER: Kaplan J 

PROVIDER: S-EPMC9936957 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature