Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly complex and the etiology poorly understood, we employed a defined human neuronal model with a single mTOR activating mutation to dissect the disease-relevant molecular responses driving the neuropathology and suggest new targets for treatment.

Methods

We investigate the disease phenotype of TSC by neural differentiation of a human stem cell model that had been deleted for TSC2 by genome editing. Comprehensive genomic analysis was performed by RNA sequencing and ribosome profiling to obtain a detailed genome-wide description of alterations on both the transcr

SUBMITTER: Grabole N 

PROVIDER: S-EPMC5031259 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature