Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin

Itzamarie Chévere-Torres, Jordan M. Maki, Emanuela Santini, Eric Klann

Research output: Contribution to journalArticle

Abstract

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of hamartomas in multiple organs. Neurological manifestation includes cortical dysplasia, epilepsy, and cognitive deficits such as mental impairment and autism. We measured the impact of TSC2-GAP mutations on cognitive processes and behavior in, δRG transgenic mice that express a dominant/negative TSC2 that binds to TSC1, but has mutations affecting its GAP domain and its rabaptin-5 binding motif, resulting in inactivation of the TSC1/2 complex. We performed a behavioral characterization of the δRG transgenic mice and found that they display mild, but significant impairments in social behavior and rotarod motor learning. These findings suggest that the δRG transgenic mice recapitulate some behavioral abnormalities observed in human TSC patients.

Original languageEnglish (US)
Pages (from-to)156-164
Number of pages9
JournalNeurobiology of Disease
Volume45
Issue number1
DOIs
StatePublished - Jan 2012

Fingerprint

Tuberous Sclerosis
Motor Skills
Interpersonal Relations
Transgenic Mice
Learning
Malformations of Cortical Development
Mutation
Inborn Genetic Diseases
Hamartoma
Social Behavior
Autistic Disorder
Neurologic Manifestations
Epilepsy
tuberous sclerosis complex 2 protein

Keywords

  • Autism
  • GAP domain
  • Motor skills
  • MTORC1
  • Reversal learning
  • Social interaction
  • Spatial learning
  • TSC2
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Neurology

Cite this

Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin. / Chévere-Torres, Itzamarie; Maki, Jordan M.; Santini, Emanuela; Klann, Eric.

In: Neurobiology of Disease, Vol. 45, No. 1, 01.2012, p. 156-164.

Research output: Contribution to journalArticle

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