Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder. Tuberous sclerosis complex is caused by pathogenic germline mutations of either the TSC1 or TSC2 gene, but somatic mutations were identified in both genes, and the combined effects of TSC1 and TSC2 mutations have been unknown.

Methods

The present study investigated social behaviors by the social interaction test and three-chambered sociability tests, effects of rapamycin treatment, and gene expression profiles with a gene expression microarray in Tsc1 and Tsc2 double heterozygous mutant (TscD^+/-) mice.

Results

TscD^+/- mice exhibited impairments in social behaviors, and the severity of imp

SUBMITTER: Kashii H 

PROVIDER: S-EPMC9893559 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature