Proteomic dissection of vanishing white matter pathogenesis.

ABSTRACT: Vanishing white matter (VWM) is a leukodystrophy caused by biallelic pathogenic variants in eukaryotic translation initiation factor 2B. To date, it remains unclear which factors contribute to VWM pathogenesis. Here, we investigated the basis of VWM pathogenesis using the 2b5^ho mouse model. We first mapped the temporal proteome in the cerebellum, corpus callosum, cortex, and brainstem of 2b5^ho and wild-type (WT) mice. Protein changes observed in 2b5^ho mice were then cross-referenced with published proteomic datasets from VWM patient brain tissue to define alterations relevant to the human disease. By comparing 2b5^ho mice with their region- and age-matched WT counterparts, we showed that the proteome in the cerebellum and cortex of 2b5^ho

SUBMITTER: Man JHK 

PROVIDER: S-EPMC11126554 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature