Single cell transcriptomics reveals dysregulated cellular and molecular networks in a fragile X syndrome model.

ABSTRACT: Despite advances in understanding the pathophysiology of Fragile X syndrome (FXS), its molecular basis is still poorly understood. Whole brain tissue expression profiles have proved surprisingly uninformative, therefore we applied single cell RNA sequencing to profile an FMRP deficient mouse model with higher resolution. We found that the absence of FMRP results in highly cell type specific gene expression changes that are strongest among specific neuronal types, where FMRP-bound mRNAs were prominently downregulated. Metabolic pathways including translation and respiration are significantly upregulated across most cell types with the notable exception of excitatory neurons. These effects point to a potential difference in the activity of mTOR pathways, and together with other dysregulated

SUBMITTER: Donnard E 

PROVIDER: S-EPMC9212148 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature