Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants.

ABSTRACT: Genes mutated in monogenic neurodevelopmental disorders are broadly expressed. This observation supports the concept that monogenic neurodevelopmental disorders are systemic diseases that profoundly impact neurodevelopment. We tested the systemic disease model focusing on Rett syndrome, which is caused by mutations in MECP2. Transcriptomes and proteomes of organs and brain regions from Mecp2-null mice as well as diverse MECP2-null male and female human cells were assessed. Widespread changes in the steady-state transcriptome and proteome were identified in brain regions and organs of presymptomatic Mecp2-null male mice as well as mutant human cell lines. The extent of these transcriptome and proteome modifications was similar in cortex, liver, kidney, and skeletal muscle and more pronounce

SUBMITTER: Zlatic SA 

PROVIDER: S-EPMC10103972 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature