Deletion of VPS50 protein in mouse brain impairs synaptic function and behavior.

ABSTRACT:

Background

The VPS50 protein functions in synaptic and dense core vesicle acidification, and perturbations of VPS50 function produce behavioral changes in Caenorhabditis elegans. Patients with mutations in VPS50 show severe developmental delay and intellectual disability, characteristics that have been associated with autism spectrum disorders (ASDs). The mechanisms that link VPS50 mutations to ASD are unknown.

Results

To examine the role of VPS50 in mammalian brain function and behavior, we used the CRISPR/Cas9 system to generate knockouts of VPS50 in both cultured murine cortical neurons and living mice. In cultured neurons, KO of VPS50 did not affect the number of synaptic vesicles but did cause mislocalization of the V-ATPase V1 domain pump and impaired synaptic activity

SUBMITTER: Ahumada-Marchant C 

PROVIDER: S-EPMC11210182 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature