MFSD7c functions as a transporter of choline at the blood-brain barrier.

ABSTRACT: Mutations in the orphan transporter MFSD7c (also known as Flvcr2), are linked to Fowler syndrome. Here, we used Mfsd7c knockout (Mfsd7c^-/-) mice and cell-based assays to reveal that MFSD7c is a choline transporter at the blood-brain barrier (BBB). We performed comprehensive metabolomics analysis and detected differential changes of metabolites in the brains and livers of Mfsd7c^-/-embryos. Particularly, we found that choline-related metabolites were altered in the brains but not in the livers of Mfsd7c^-/- embryos. Thus, we hypothesized that MFSD7c regulates the level of choline in the brain. Indeed, expression of human MFSD7c in cells significantly increased choline uptake. Interestingly, we showed that choline uptake by MFSD7c is greatly increased by cholin

SUBMITTER: Nguyen XTA 

PROVIDER: S-EPMC10907603 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature