A brain proteomic investigation of rapamycin effects in the Tsc1^+/- mouse model.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is a rare monogenic disorder characterized by benign tumors in multiple organs as well as a high prevalence of epilepsy, intellectual disability and autism. TSC is caused by inactivating mutations in the TSC1 or TSC2 genes. Heterozygocity induces hyperactivation of mTOR which can be inhibited by mTOR inhibitors, such as rapamycin, which have proven efficacy in the treatment of TSC-associated symptoms. The aim of the present study was (1) to identify molecular changes associated with social and cognitive deficits in the brain tissue of Tsc1^+/- mice and (2) to investigate the molecular effects of rapamycin treatment, which has been shown to ameliorate genotype-related behavioural deficits.

Methods

Mole

SUBMITTER: Wesseling H 

PROVIDER: S-EPMC5540199 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature