Mouse models of tuberous sclerosis complex

J Child Neurol. 2004 Sep;19(9):726-33. doi: 10.1177/08830738040190091401.

Abstract

The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional signaling complex. Disruption of these genes in the brain results in abnormal cellular differentiation, migration, and proliferation, giving rise to characteristic brain lesions called cortical tubers. Relevant animal models, including conventional and conditional knockout mice, are valuable tools for studying the normal functions of tuberin and hamartin and how disruption of their expression gives rise to the variety of clinical features that characterize tuberous sclerosis complex. In the future, these animals will be invaluable preclinical models for the development of highly specific and efficacious treatments for children affected with tuberous sclerosis complex.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Animals
  • Child
  • Disease Models, Animal*
  • Genes, Tumor Suppressor
  • Humans
  • Mice
  • Nervous System / growth & development
  • Nervous System / pathology
  • Proteins / genetics*
  • Proteins / pharmacology
  • Repressor Proteins / genetics*
  • Repressor Proteins / pharmacology
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / physiopathology*
  • Tuberous Sclerosis / veterinary*
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Repressor Proteins
  • TSC1 protein, human
  • TSC2 protein, human
  • Tsc1 protein, mouse
  • Tsc2 protein, mouse
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins